148 results match your criteria Vitamin B-12 Associated Neurological Diseases


Associations of Circulating Methylmalonic Acid and Vitamin B-12 Biomarkers Are Modified by Vegan Dietary Pattern in Adult and Elderly Participants of the Adventist Health Study 2 Calibration Study.

Curr Dev Nutr 2020 Feb 22;4(2):nzaa008. Epub 2020 Jan 22.

Center for Nutrition, Healthy Lifestyle and Disease Prevention, School of Public Health, Loma Linda University, Loma Linda, CA, USA.

Background: Elevated plasma methylmalonic acid (MMA) is a functional biomarker of vitamin B-12 status but limited information is available on its prevalence in US vegetarians.

Objectives: The study examines the prevalence of plasma MMA ≥0.27 µmol/L in those consuming vegetarian diets, its associations with vitamin B-12 intake and biomarkers, and the modifying effect of vegetarian patterns on these associations. Read More

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http://dx.doi.org/10.1093/cdn/nzaa008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7010841PMC
February 2020

Neurological symptoms of vitamin B12 deficiency: analysis of pediatric patients.

Acta Clin Croat 2019 Jun;58(2):295-302

1Department of Pediatric Neurology, Ege University, School of Medicine, İzmir, Turkey; 2Department of Pediatric Neurology, Karadeniz Technical University, School of Medicine, Trabzon, Turkey.

Vitamin B12 is one of the essential vitamins that affect various systems in the body, including the central nervous system. Vitamin B12 plays an important part in the metabolism of the nervous system, although its exact role under pathological conditions is not fully understood. The purpose of this study was to emphasize the importance of early diagnosis of vitamin B12 deficiency in the light of the characteristics of the patients enrolled. Read More

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http://dx.doi.org/10.20471/acc.2019.58.02.13DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6884369PMC

Homocysteine, vitamin B12, and folate levels in patients with multiple sclerosis in Chinese population: A case-control study and meta-analysis.

Mult Scler Relat Disord 2019 Nov 10;36:101395. Epub 2019 Sep 10.

Department of Histology and Embryology, Yichun University, Xuefu Road, Yichun, Jiangxi Province, 336000, PR China. Electronic address:

Background: Current studies suggested discrepancies on the correlations between multiple sclerosis (MS) and blood levels of homocysteine (Hcy), vitamin B12 (VB12), and folate. We performed a case-control study and meta-analysis to help resolve the controversy of these lab values in Chinese patients with MS.

Methods: We recruited 80 Chinese MS patients, 86 age/sex matched neurological controls (patients with peripheral vertigo or sleep disorders), and 80 age- and sex-matched healthy controls. Read More

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http://dx.doi.org/10.1016/j.msard.2019.101395DOI Listing
November 2019
2 Reads

Implication of homocysteine in protein quality control processes.

Biochimie 2019 Oct 30;165:19-31. Epub 2019 Jun 30.

Biochemistry Division, National Institute of Nutrition, Hyderabad, India. Electronic address:

Homocysteine (Hcy) is a key metabolite generated during methionine metabolism. The elevated levels of Hcy in the blood are reffered to as hyperhomocystenimeia (HHcy). The HHcy is caused by impaired metabolism/deficiency of either folate or B12 or defects in Hcy metabolism. Read More

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http://dx.doi.org/10.1016/j.biochi.2019.06.017DOI Listing
October 2019
6 Reads

[Kidney disease in cobalamin C deficiency].

Nephrol Ther 2019 Jul 23;15(4):201-214. Epub 2019 May 23.

Service de néphrologie, dialyse et transplantation, CHU de Rouen, 1, rue de Germont, 76031 Rouen, France; Inserm U1096, UFR médecine pharmacie, 22, boulevard Gambetta, 76183 Rouen, France.

Cobalamin C deficiency (cblC) is the most common inborn error of vitamin B metabolism. This autosomal recessive disease is due to mutations in MMACHC gene, encoding a cyanocobalamin decyanase. It leads to hyperhomocysteinemia associated with hypomethioninemia and methylmalonic aciduria. Read More

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http://dx.doi.org/10.1016/j.nephro.2019.03.011DOI Listing
July 2019
16 Reads

Vitamin B12 inhibits α-synuclein fibrillogenesis and protects against amyloid-induced cytotoxicity.

Food Funct 2019 May;10(5):2861-2870

State Key Laboratory of Food Nutrition and Safety, Tianjin, 300457, P. R. China.

Vitamin B12 (VB12) is a necessary micronutrient for growth and the development of the nervous system. Severe deficiencies of VB12 have been linked to damage of learning and memory ability and cognitive decline, along with several neurological diseases. Misfolding and aggregation of α-synuclein (αSN) into insoluble fibrils is associated with the onset and progression of Parkinson's disease (PD), which affects tens of millions of elderly patients all over the world. Read More

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http://dx.doi.org/10.1039/c8fo02471eDOI Listing
May 2019
3 Reads

Causes of chronic neuropathies: a single-center experience.

Neurol Sci 2019 Aug 18;40(8):1611-1617. Epub 2019 Apr 18.

Unit of Neurology, Neurobiology, Department of Medicine, University Campus Bio-Medico of Rome, via Álvaro del Portillo, 21, 00128, Rome, Italy.

Objectives: Chronic neuropathies are a common cause of neurological disability worldwide. However, few reports have evaluated, in real life, the prevalence of the several conditions which can cause it.

Patients And Methods: The authors reviewed informatic database for outpatient office to confirm identification of chronic neuropathy in a 3-year interval period. Read More

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http://link.springer.com/10.1007/s10072-019-03899-z
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http://dx.doi.org/10.1007/s10072-019-03899-zDOI Listing
August 2019
21 Reads

Developmental Impairments in a Rat Model of Methyl Donor Deficiency: Effects of a Late Maternal Supplementation with Folic Acid.

Int J Mol Sci 2019 Feb 23;20(4). Epub 2019 Feb 23.

Université de Lorraine, Inserm U1256, NGERE, Faculté de Médecine, 9 avenue de la Forêt de Haye, F-54500 Vandoeuvre-lès-Nancy, France.

Vitamins B9 (folate) and B12 act as methyl donors in the one-carbon metabolism which influences epigenetic mechanisms. We previously showed that an embryofetal deficiency of vitamins B9 and B12 in the rat increased brain expression of let-7a and miR-34a microRNAs involved in the developmental control of gene expression. This was reversed by the maternal supply with folic acid (3 mg/kg/day) during the last third of gestation, resulting in a significant reduction of associated birth defects. Read More

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http://dx.doi.org/10.3390/ijms20040973DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6413039PMC
February 2019
7 Reads

Imerslund-Gräsbeck Syndrome in an Infant with a Novel Intronic Variant in the Gene: A Case Report.

Int J Mol Sci 2019 Jan 27;20(3). Epub 2019 Jan 27.

Pediatric Clinic, Department of Surgical and Biomedical Sciences, Università degli Studi di Perugia, Piazza Menghini 1, 06129 Perugia, Italy.

Imerslund-Gräsbeck syndrome (IGS) is a rare autosomal recessive disorder clinically characterized by megaloblastic anemia, benign mild proteinuria, and other nonspecific symptoms. Several pathogenetic variants in the amnionless () or cubilin () genes have been described in IGS. We describe a case of IGS with urinary tract infection and mild but persistent proteinuria at onset in an 11-month-old female child. Read More

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http://dx.doi.org/10.3390/ijms20030527DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6387074PMC
January 2019
11 Reads

Associations between metformin use and vitamin B levels, anemia, and neuropathy in patients with diabetes: a meta-analysis.

J Diabetes 2019 Sep 29;11(9):729-743. Epub 2019 Mar 29.

Department of Endocrinology and Metabolism, Peking University People's Hospital, Beijing, China.

Background: Metformin is first-line therapy for patients with diabetes. However, it may lower vitamin B concentrations, which could have hematological or neurological implications. This meta-analyses reviewed all available studies on associations between metformin use and vitamin B levels, anemia, and neuropathy in diabetic patients. Read More

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http://doi.wiley.com/10.1111/1753-0407.12900
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http://dx.doi.org/10.1111/1753-0407.12900DOI Listing
September 2019
44 Reads

Homocysteine Modification in Protein Structure/Function and Human Disease.

Physiol Rev 2019 01;99(1):555-604

Department of Microbiology, Biochemistry and Molecular Genetics, Rutgers-New Jersey Medical School, International Center for Public Health , Newark, New Jersey ; and Department of Biochemistry and Biotechnology, Poznań University of Life Sciences , Poznań , Poland.

Epidemiological studies established that elevated homocysteine, an important intermediate in folate, vitamin B, and one carbon metabolism, is associated with poor health, including heart and brain diseases. Earlier studies show that patients with severe hyperhomocysteinemia, first identified in the 1960s, exhibit neurological and cardiovascular abnormalities and premature death due to vascular complications. Although homocysteine is considered to be a nonprotein amino acid, studies over the past 2 decades have led to discoveries of protein-related homocysteine metabolism and mechanisms by which homocysteine can become a component of proteins. Read More

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https://www.physiology.org/doi/10.1152/physrev.00003.2018
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http://dx.doi.org/10.1152/physrev.00003.2018DOI Listing
January 2019
52 Reads

[Neurological pathology associated with vitamin B group deficiency: thiamine, folate and cobalamin].

Nutr Hosp 2018 Sep 7;35(Spec No6):54-59. Epub 2018 Sep 7.

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The "fragility" of the nervous system, especially concerning to its nutrition and metabolism, explains why vitamin deficits are an important cause of neurological pathology. Some deficiency diseases, which can be very severe and irreversible, are still present in our environment; diagnosis, which must be early so as not to delay treatment, can be difficult if we do not have them in mind. In this review we address the most relevant neurological diseases associated with thiamine, folate and cobalamin deficiency, and we focus especially combined subacute degeneration and Wernicke-Korsakoff syndrome. Read More

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http://dx.doi.org/10.20960/nh.2289DOI Listing
September 2018
15 Reads

Pernicious anemia associated with cryptogenic cirrhosis: Two case reports and a literature review.

Medicine (Baltimore) 2018 Sep;97(39):e12547

Department of Hepatology, The First Hospital of Jilin University, Jilin University, Changchun, Jilin, China.

Rationale: Pernicious anemia (PA) is an autoimmune gastritis that results from the destruction of gastric parietal cells and the associated lack of an intrinsic factor to bind ingested vitamin B12. While an association between PA and various liver diseases has been rarely reported, reports of associated diseases include primary biliary cholangitis, autoimmune hepatitis, and Interferon-treated hepatitis C. We present 2 cases of PA associated with cryptogenic cirrhosis (CC), which has not been previously reported in the literature. Read More

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http://Insights.ovid.com/crossref?an=00005792-201809280-0007
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http://dx.doi.org/10.1097/MD.0000000000012547DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6181571PMC
September 2018
35 Reads

Gluten and Neuroimmunology. Rare association with Myasthenia Gravis and Literature Review.

Rev Assoc Med Bras (1992) 2018 Apr;64(4):311-314

Ambulatory of neuromuscular diseases.

As the celiac disease (CD), the non-celiac gluten sensitivity (NCGS) has also been associated with several autoimmune manifestations. It is rarely associated with myasthenia gravis (MG). This paper shall introduce the case of a young female patient, initially presenting a peripheral neuropathy framework. Read More

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http://dx.doi.org/10.1590/1806-9282.64.04.311DOI Listing
April 2018
53 Reads

Mice lacking the transcobalamin-vitamin B12 receptor, CD320, suffer from anemia and reproductive deficits when fed vitamin B12-deficient diet.

Hum Mol Genet 2018 10;27(20):3627-3640

Division of Intramural Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

In humans, poor nutrition, malabsorption and variation in cobalamin (vitamin B12) metabolic genes are associated with hematological, neurological and developmental pathologies. Cobalamin is transported from blood into tissues via the transcobalamin (TC) receptor encoded by the CD320 gene. We created mice carrying a targeted deletion of the mouse ortholog, Cd320. Read More

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https://academic.oup.com/hmg/article/27/20/3627/5067847
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http://dx.doi.org/10.1093/hmg/ddy267DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6168973PMC
October 2018
47 Reads

Neuropathy by folic acid supplementation in a patient with anaemia and an untreated cobalamin deficiency: a case report.

Clin Obes 2018 Aug 31;8(4):300-304. Epub 2018 May 31.

Obesity Center, Catharina Hospital, Eindhoven, The Netherlands.

The rising rates of bariatric surgery (BS) are accompanied by neurological complications related to nutrient deficiencies. One of the risk factors for neurological complications in BS patients is poor vitamin and mineral supplementation. Prevention, diagnosis and treatment of these disorders are necessary parts of lifelong care after BS. Read More

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http://dx.doi.org/10.1111/cob.12254DOI Listing
August 2018
22 Reads

No laughing matter: subacute degeneration of the spinal cord due to nitrous oxide inhalation.

J Neurol 2018 May 3;265(5):1089-1095. Epub 2018 Mar 3.

The Royal London Hospital, Emergency Care and Acute Medicine Clinical Academic Group, Neuroscience, Barts Health NHS Trust, London, UK.

Background: Whilst the dangers of 'legal highs' have been widely publicised in the media, very few cases of the neurological syndrome associated with the inhalation of nitrous oxide (NO) have been reported. Here we set out to raise awareness of subacute degeneration of the spinal cord arising from recreational NO use so that formal surveillance programs and public health interventions can be designed.

Methods: Case series documenting the clinical and investigational features of ten consecutive cases of subacute degeneration of the spinal cord presenting to a hospital with a tertiary neurosciences service in East London. Read More

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http://dx.doi.org/10.1007/s00415-018-8801-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5937900PMC
May 2018
34 Reads

Evidence From Web-Based Dietary Search Patterns to the Role of B12 Deficiency in Non-Specific Chronic Pain: A Large-Scale Observational Study.

J Med Internet Res 2018 01 5;20(1):e4. Epub 2018 Jan 5.

Microsoft Research, Herzeliya, Israel.

Background: Profound vitamin B12 deficiency is a known cause of disease, but the role of low or intermediate levels of B12 in the development of neuropathy and other neuropsychiatric symptoms, as well as the relationship between eating meat and B12 levels, is unclear.

Objective: The objective of our study was to investigate the role of low or intermediate levels of B12 in the development of neuropathy and other neuropsychiatric symptoms.

Methods: We used food-related Internet search patterns from a sample of 8. Read More

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http://dx.doi.org/10.2196/jmir.8667DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5775484PMC
January 2018
9 Reads

Long-term Outcome of 4 Patients With Transcobalamin Deficiency Caused by 2 Novel TCN2 Mutations.

J Pediatr Hematol Oncol 2017 11;39(8):e430-e436

*Department of Pediatrics, King Abdullah International Medical Research Centre, Genetics Division #King Saud bin Abdulaziz University for Health Science, King Abdulaziz Medical City §Department of Pediatrics ∥Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre ¶Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia †Department of Pediatrics, Genetics & Metabolism, University of Florida, Gainesville, FL ‡Department of Clinical Biochemistry, Aarhus University Hospital, Aarhus, Denmark.

Cobalamin (vitamin B12 [Cbl]) is an essential cofactor for many biochemical pathways. Transcobalamin (TC) is required to internalize Cbl into the cells through membrane receptor-mediated endocytosis. Cbl is then processed in the cytoplasm and mitochondria by complementation factors leading to its active metabolites; methylcobalamin and 5-deoxyadenosyl-cobalamin. Read More

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http://Insights.ovid.com/crossref?an=00043426-201711000-0001
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http://dx.doi.org/10.1097/MPH.0000000000000857DOI Listing
November 2017
68 Reads

Influence of Diet in Multiple Sclerosis: A Systematic Review.

Adv Nutr 2017 May 15;8(3):463-472. Epub 2017 May 15.

Department of Food Science, Regional Campus of International Excellence "Campus Mare Nostrum," University of Murcia, Murcia, Spain;

Nutrition is considered to be a possible factor in the pathogenesis of the neurological disease multiple sclerosis (MS). Nutrition intervention studies suggest that diet may be considered as a complementary treatment to control the progression of the disease; a systematic review of the literature on the influence of diet on MS was therefore conducted. The literature search was conducted by using Medlars Online International Literature (MEDLINE) via PubMed and Scopus. Read More

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http://dx.doi.org/10.3945/an.116.014191DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5421121PMC
May 2017
67 Reads

Vitamin B deficiency from the perspective of a practicing hematologist.

Authors:
Ralph Green

Blood 2017 05 30;129(19):2603-2611. Epub 2017 Mar 30.

Department of Pathology and Laboratory Medicine, University of California, Davis, Sacramento, CA.

B deficiency is the leading cause of megaloblastic anemia, and although more common in the elderly, can occur at any age. Clinical disease caused by B deficiency usually connotes severe deficiency, resulting from a failure of the gastric or ileal phase of physiological B absorption, best exemplified by the autoimmune disease pernicious anemia. There are many other causes of B deficiency, which range from severe to mild. Read More

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http://dx.doi.org/10.1182/blood-2016-10-569186DOI Listing
May 2017
32 Reads

Sensory Neuronopathy Revealing Severe Vitamin B12 Deficiency in a Patient with Anorexia Nervosa: An Often-Forgotten Reversible Cause.

Nutrients 2017 Mar 15;9(3). Epub 2017 Mar 15.

Service de Neurologie, CHU Bordeaux 33000 Bordeaux, France.

Vitamin B12 (B12) deficiency is known to be associated with various neurological manifestations. Although central manifestations such as dementia or subacute combined degeneration are the most classic, neurological manifestations also include sensory neuropathies. However, B12 deficiency is still rarely integrated as a potential cause of sensory neuronopathy. Read More

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http://dx.doi.org/10.3390/nu9030281DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5372944PMC
March 2017
59 Reads

Micronutrient deficiencies in patients with chronic atrophic autoimmune gastritis: A review.

World J Gastroenterol 2017 Jan;23(4):563-572

Federica Cavalcoli, Alessandra Zilli, Dario Conte, Sara Massironi, Gastroenterology and Endoscopy Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.

Chronic atrophic autoimmune gastritis (CAAG) is an organ-specific autoimmune disease characterized by an immune response, which is directed towards the parietal cells and intrinsic factor of the gastric body and fundus and leads to hypochlorhydria, hypergastrinemia and inadequate production of the intrinsic factor. As a result, the stomach's secretion of essential substances, such as hydrochloric acid and intrinsic factor, is reduced, leading to digestive impairments. The most common is vitamin B12 deficiency, which results in a megaloblastic anemia and iron malabsorption, leading to iron deficiency anemia. Read More

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http://dx.doi.org/10.3748/wjg.v23.i4.563DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5292330PMC
January 2017
50 Reads

Thrombotic microangiopathy caused by methionine synthase deficiency: diagnosis and treatment pitfalls.

Pediatr Nephrol 2017 06 16;32(6):1089-1092. Epub 2017 Feb 16.

Mendelis Analise Genomica, Sao Paulo, Brazil.

Background: Inborn errors of cobalamin (Cbl) metabolism form a large group of rare diseases. One of these, Cbl deficiency type C (CblC), is a well-known cause of thrombotic microangiopathy (TMA), especially in infants. However, there has only been a single published case of TMA associated to Cbl deficiency type G (CblG), also known as methionine synthase deficiency (MSD). Read More

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http://dx.doi.org/10.1007/s00467-017-3615-6DOI Listing
June 2017
50 Reads

Vitamin B12 deficiency neuropathy; a rare diagnosis in young adults: a case report.

BMC Res Notes 2017 Jan 28;10(1):72. Epub 2017 Jan 28.

Department of Medicine, Faculty of Health Sciences, University of Buea and Global Health Dialogue Foundation, Buea, Cameroon.

Background: Vitamin B12 deficiency is a metabolic disorder with many causes. It often presents with megaloblastic anaemia and neurological disorders which entail prompt treatment. The diagnosis of Vitamin B12 deficiency is challenging in resource limited-settings due to limited access to diagnostic tools and unfamiliarity with the disease, owing to its rarity especially in young people. Read More

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http://dx.doi.org/10.1186/s13104-017-2393-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5273828PMC
January 2017
48 Reads
1 Citation

[A Case of Subacute Combined Degeneration Caused by Vitamin B12 Deficiency in a Cervical Spondylosis Surgery Referral].

No Shinkei Geka 2016 Dec;44(12):1059-1063

Department of Neurosurgery, Takeda General Hospital.

A 62-year-old man with a 1-year history of numbness of the extremities, clumsiness, and gait disorder was diagnosed with cervical spondylotic myelopathy at a neighboring clinic and referred to our institution for surgery. The patient had undergone a total gastrectomy 6 years previously. Flattening of the cervical cord, associated with diffuse cervical spondylosis and intramedullary intensity change, was observed on magnetic resonance imaging of the cervical spine. Read More

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http://dx.doi.org/10.11477/mf.1436203428DOI Listing
December 2016
37 Reads

Factors Associated with Frontotemporal Dementia in China: A Cross-Sectional Study.

Arch Med Res 2016 07;47(5):388-393

Department of Neurology, and Tianjin Key Laboratory of Cerebrovascular and Neurodegenerative Diseases, Tianjin Huanhu Hospital, Tianjin, China.

Background And Aims: There is a growing focus on frontotemporal dementia (FTD). However, compared with other major dementias, very little is known about the factors associated with FTD. The present study evaluated candidate factors associated with FTD in the Chinese population. Read More

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http://dx.doi.org/10.1016/j.arcmed.2016.09.001DOI Listing
July 2016
28 Reads
2.410 Impact Factor

B12 deficiency is common in infants and is accompanied by serious neurological symptoms.

Acta Paediatr 2017 Jan 11;106(1):101-104. Epub 2016 Nov 11.

Unit of Research, Education and Development, Östersund Hospital, Östersund, Sweden.

Aim: Adverse neurological symptoms have been linked to vitamin B12 deficiency in infants. This explorative study described the clinical presentation associated with vitamin B12 deficiency in this age group.

Methods: The study comprised infants who were born between 2004 and 2012 and were tested for vitamin B12 levels after they were admitted to a hospital with neurological symptoms at less than one year of age. Read More

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http://dx.doi.org/10.1111/apa.13625DOI Listing
January 2017
10 Reads

Vitamin B-12 status and neurologic function in older people: a cross-sectional analysis of baseline trial data from the Older People and Enhanced Neurological Function (OPEN) study.

Am J Clin Nutr 2016 Sep 17;104(3):790-6. Epub 2016 Aug 17.

Faculty of Epidemiology and Population Health, London School of Hygiene & Tropical Medicine, London, United Kingdom;

Background: Aging is associated with a progressive decline in vitamin B-12 status. Overt vitamin B-12 deficiency causes neurologic disturbances in peripheral and central motor and sensory systems, but the public health impact for neurologic disease of moderately low vitamin B-12 status in older people is unclear. Evidence from observational studies is limited by heterogeneity in the definition of vitamin B-12 status and imprecise measures of nerve function. Read More

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http://dx.doi.org/10.3945/ajcn.116.137927DOI Listing
September 2016
16 Reads

Large Amplitude Cortical Evoked Potentials in Nonepileptic Patients. Reviving an Old Neurophysiologic Tool to Help Detect CNS Pathology.

J Clin Neurophysiol 2017 Jan;34(1):84-91

*Department of Clinical Neurophysiology, Hospital Ramón y Cajal, Madrid, Spain; †Department of Clinical Neurophysiology, Hospital General Universitario de Ciudad Real, Madrid, Spain; ‡Department of Clinical Neurophysiology, Hospital Universitario de Torrejón, Madrid, Spain; and Departments of §Neurology & Neurological Sciences and ‖Neurosurgery, Stanford University School of Medicine, Stanford, California, U.S.A.

Purpose: Although large amplitude evoked potentials (EPs) are typically associated with progressive myoclonic epilepsy patients, giant EPs imply central nervous system (CNS) hyperexcitability and can be seen in various nonepileptic disorders.

Methods: We performed a retrospective chart review including history, physical examination, imaging and diagnostic studies of nonepileptic patients with large amplitude somatosensory evoked potentials (SSEPs) and visual evoked potentials (VEPs) during 2007 to 2013. Large amplitude EPs were defined as follows: VEPs (N75-P100) >18 μV; and SSEPs (N20-P25) >6. Read More

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http://dx.doi.org/10.1097/WNP.0000000000000326DOI Listing
January 2017
61 Reads

The role of Vitamin B12 in the critically ill--a review.

Anaesth Intensive Care 2016 Jul;44(4):447-52

Director, General Intensive Care Unit, Hadassah University Hospital, Jerusalem, Israel.

Vitamin B12 is an essential micronutrient, as humans have no capacity to produce the vitamin and it needs to be ingested from animal proteins. The ingested Vitamin B12 undergoes a complex process of absorption and assimilation. Vitamin B12 is essential for cellular function. Read More

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http://dx.doi.org/10.1177/0310057X1604400410DOI Listing
July 2016
59 Reads

Inborn Error of Cobalamin Metabolism Associated with the Intracellular Accumulation of Transcobalamin-Bound Cobalamin and Mutations in ZNF143, Which Codes for a Transcriptional Activator.

Hum Mutat 2016 09 12;37(9):976-82. Epub 2016 Jul 12.

Department of Human Genetics, McGill University, Montreal, Quebec, Canada.

Vitamin B12 (cobalamin, Cbl) cofactors adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl) are required for the activity of the enzymes methylmalonyl-CoA mutase (MCM) and methionine synthase (MS). Inborn errors of Cbl metabolism are rare Mendelian disorders associated with hematological and neurological manifestations, and elevations of methylmalonic acid and/or homocysteine in the blood and urine. We describe a patient whose fibroblasts had decreased functional activity of MCM and MS and decreased synthesis of AdoCbl and MeCbl (3. Read More

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http://dx.doi.org/10.1002/humu.23037DOI Listing
September 2016
69 Reads
2 Citations
5.144 Impact Factor

Renal thrombotic microangiopathy in patients with cblC defect: review of an under-recognized entity.

Pediatr Nephrol 2017 05 11;32(5):733-741. Epub 2016 Jun 11.

Division of Paediatric Nephrology, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.

Methylmalonic aciduria and homocystinuria, cobalamin C (cblC) type, is the most common genetic type of functional cobalamin (vitamin B) deficiency. This metabolic disease is characterized by marked heterogeneity of neurocognitive disease (microcephaly, seizures, developmental delay, ataxia, hypotonia) and variable extracentral nervous system involvement (failure to thrive, cardiovascular, renal, ocular) manifesting predominantly early in life, sometimes during gestation. To enhance awareness and understanding of renal disease associated with cblC defect, we studied biochemical, genetic, clinical, and histopathological data from 36 patients. Read More

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http://dx.doi.org/10.1007/s00467-016-3399-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5368212PMC
May 2017
15 Reads

Catatonia as an internal medicine disease: infrequent or still underdiagnosed?

BMJ Case Rep 2016 Apr 22;2016. Epub 2016 Apr 22.

Department of Medicine, Hospital São Francisco Xavier/CHLO/NOVA Medical School, Faculdade de Ciências Médicas, Universidade Nova de Lisboa, Lisbon, Portugal.

Catatonia is a motor and behavioural syndrome with multiple psychiatric, general medical and neurological aetiologies that might be simultaneously present. B12 deficiency is a rare, treatable cause of catatonia, not always easy to rule out. The authors present a case of a woman with catatonia associated with severe cyanocobalamin deficiency, admitted to an internal medicine ward. Read More

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http://dx.doi.org/10.1136/bcr-2015-214233DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4854176PMC
April 2016
11 Reads

[Neuropsychiatric manifestations ushering pernicious anemia].

Encephale 2015 Dec 4;41(6):550-5. Epub 2015 Sep 4.

Service de psychiatrie G, hôpital Razi la Mannouaba, faculté de médecine de Tunis, Tunis, Tunisie.

Biermer disease or pernicious anemia is an autoimmune atrophic gastritis characterized by the lack of secretion of gastric intrinsic factor. This leads to an insufficient absorption of vitamin B12 in the ileum. Clinical manifestations are mainly hematologic. Read More

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http://dx.doi.org/10.1016/j.encep.2015.07.004DOI Listing
December 2015
18 Reads

Low levels of cobalamin, epidermal growth factor, and normal prions in multiple sclerosis spinal cord.

Neuroscience 2015 Jul 16;298:293-301. Epub 2015 Apr 16.

Division of Brain Sciences, Imperial College, London W12 0NN, UK.

We have previously demonstrated that multiple sclerosis (MS) patients have abnormal cerebrospinal fluid (CSF) levels of the key myelin-related molecules cobalamin (Cbl), epidermal growth factor (EGF), and normal cellular prions (PrP(C)s), thus confirming that some CSF abnormalities may be co-responsible for remyelination failure. We determined the levels of these three molecules in post-mortem spinal cord (SC) samples taken from MS patients and control patients. The control SC samples, almost all of which came from non-neurological patients, did not show any microscopic lesions of any type. Read More

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http://dx.doi.org/10.1016/j.neuroscience.2015.04.020DOI Listing
July 2015
21 Reads

Pernicious anemia presenting as catatonia: correlating vitamin B12 levels and catatonic symptoms.

Gen Hosp Psychiatry 2015 May-Jun;37(3):273.e5-7. Epub 2015 Feb 23.

Université Lille Nord de France, Lille, France; Department of Psychiatry, CHU Lille, Lille, France. Electronic address:

Pernicious anemia has been associated with various psychiatric manifestations, such as depression, mania and psychosis. Psychiatric symptoms can sometimes occur without hematological and neurological abnormalities and can be prodromal of vitamin B12 deficiency. We report a case of autoimmune B12 deficiency presenting as catatonia without signs of anemia or macrocytosis, in which a correlation was found between the patient's B12 blood levels and catatonic symptoms over time. Read More

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http://dx.doi.org/10.1016/j.genhosppsych.2015.02.003DOI Listing
February 2016
26 Reads

Vitamin B12-responsive neuropathies: A case series.

Nutr Neurosci 2016 May 24;19(4):162-8. Epub 2015 Feb 24.

a Section of Palliative Care, Department of Medicine , Yale University School of Medicine and Smilow Cancer Hospital , New Haven , CT , USA.

Objectives: Neuropathies often accompany vitamin B12 deficiency. Since many neuropathies are linked to oxidative stress and since B12 has both antioxidant and neurotrophic properties, B12 may also be effective treatment in non-deficient subjects. Thus, the characteristics and predictors of B12-responsive neuropathies and their relationship to disorders associated with increased oxidative stress (oxidant risks) were examined. Read More

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http://dx.doi.org/10.1179/1476830515Y.0000000006DOI Listing
May 2016
25 Reads

Impact of personalized diet and probiotic supplementation on inflammation, nutritional parameters and intestinal microbiota - The "RISTOMED project": Randomized controlled trial in healthy older people.

Clin Nutr 2015 Aug 8;34(4):593-602. Epub 2014 Oct 8.

Experimental Medicine Department, Sapienza University of Rome, P.le Aldo Moro 5, 00185 Rome, Italy; Medical University of Innsbruck, Innrain 52, 6020 Innsbruck, Austria.

Objectives: To assess the impact of a personalized diet, with or without addition of VSL#3 preparation, on biomarkers of inflammation, nutrition, oxidative stress and intestinal microbiota in 62 healthy persons aged 65-85 years.

Design: Open label, randomized, multicenter study.

Primary Endpoint: High-sensitivity C-reactive protein. Read More

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http://dx.doi.org/10.1016/j.clnu.2014.09.023DOI Listing
August 2015
80 Reads

Helicobacter pylori and extragastric diseases.

Helicobacter 2014 Sep;19 Suppl 1:52-8

Internal Medicine Institute, Catholic University of Rome, Rome, Italy.

While Helicobacter pylori infection was initially revealed to be associated only with some gastroduodenal diseases, further studies have shown its possible role in several extragastric diseases. For idiopathic thrombocytopenic purpura, sideropenic anemia, and vitamin B12 deficiency, the diagnosis of H. pylori infection is recommended, and there are many other conditions such as cardiovascular, neurological, dermatological, and respiratory diseases in which H. Read More

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http://dx.doi.org/10.1111/hel.12159DOI Listing
September 2014
38 Reads

Impaired lysosomal cobalamin transport in Alzheimer's disease.

J Alzheimers Dis 2015 ;43(3):1017-30

Illawarra Health and Medical Research Institute, University of Wollongong, NSW, Australia School of Biological Sciences, University of Wollongong, NSW, Australia.

Cobalamin (vitamin B12) is required for erythrocyte formation and DNA synthesis and it plays a crucial role in maintaining neurological function. As a coenzyme for methionine synthase and methylmalonyl-CoA mutase, cobalamin utilization depends on its efficient transit through the intracellular lysosomal compartment and subsequent delivery to the cytosol and mitochondria. Lysosomal function deteriorates in Alzheimer's disease (AD). Read More

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http://dx.doi.org/10.3233/JAD-140681DOI Listing
August 2015
31 Reads

B12 deficiency increases with age in hospitalized patients: a study on 14,904 samples.

J Gerontol A Biol Sci Med Sci 2014 Dec 25;69(12):1576-85. Epub 2014 Jul 25.

Service d'Hématologie biologique, Assistance Publique - Hôpitaux de Paris, Groupe Hospitalier Universitaire Henri Mondor, Créteil, France. Faculté de Médecine, Université Paris Est Créteil, Créteil, France.

Background: Cobalamin deficiency is responsible for hematological, neurological, neurocognitive, and neuropsychiatric impairments and is a risk factor for cardiovascular diseases, particularly in the elderly people.

Methods: In order to determine B12 status in old inpatients, a total number of 14,904 hospitalized patients in whom B12 measurements were performed in five hospitals in the Paris metropolitan area were included from January 1, 2011 to December 31, 2011. The aims of the study were to determine whether age had an impact on B12 and folate deficiencies and to evaluate correlations between B12 and biological parameters-folate, hemoglobin, mean cell volume, homocystein (tHcy)-and age. Read More

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http://biomedgerontology.oxfordjournals.org/content/early/20
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http://biomedgerontology.oxfordjournals.org/cgi/doi/10.1093/
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http://dx.doi.org/10.1093/gerona/glu109DOI Listing
December 2014
34 Reads

Two infants with infantile spasms associated with vitamin B12 deficiency.

Pediatr Neurol 2014 Jul 5;51(1):144-6. Epub 2014 Mar 5.

Department of Pediatric Neurology, Dr. Sami Ulus Research and Training Hospital of Women's and Children's Health and Diseases, Ankara, Turkey.

Background: In developing countries, nutritional vitamin B12 deficiency in infants because of maternal deficiency often causes hematological and neurological disorders. However, epilepsy is a rare manifestation of vitamin B12 deficiency. The biological basis for the observed neurological symptoms of infantile vitamin B12 deficiency remains uncertain. Read More

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http://dx.doi.org/10.1016/j.pediatrneurol.2014.03.001DOI Listing
July 2014
20 Reads

The Kampo medicine Goshajinkigan prevents neuropathy in breast cancer patients treated with docetaxel.

Asian Pac J Cancer Prev 2013 ;14(11):6351-6

Breast Center, Bell Land General Hospital, Japan E-mail :

Background: Goshajinkigan (GJG) is used for the treatment of several neurological symptoms. We investigated the efficacy of GJG and mecobalamin (B12) against neurotoxicity associated with docetaxel (DOC) in breast cancer patients.

Materials And Methods: Sixty breast cancer patients were treated with DOC. Read More

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http://ocean.kisti.re.kr/downfile/volume/apocp/POCPA9/2013/v
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http://dx.doi.org/10.7314/apjcp.2013.14.11.6351DOI Listing
January 2015
14 Reads

Tropical myelopathies.

Authors:
Gustavo C Román

Handb Clin Neurol 2014 ;121:1521-48

Department of Neurology, Weill Cornell Medical College, Methodist Neurological Institute, Houston, TX, USA. Electronic address:

A large number of causal agents produce spinal cord lesions in the tropics. Most etiologies found in temperate regions also occur in the tropics including trauma, herniated discs, tumors, epidural abscess, and congenital malformations. However, infectious and nutritional disorders occur with higher prevalence in tropical regions. Read More

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http://dx.doi.org/10.1016/B978-0-7020-4088-7.00102-4DOI Listing
April 2014
53 Reads

Neurologic aspects of cobalamin (B12) deficiency.

Authors:
Neeraj Kumar

Handb Clin Neurol 2014 ;120:915-26

Department of Neurology, Mayo Clinic, Rochester, MN, USA. Electronic address:

Optimal functioning of the central and peripheral nervous system is dependent on a constant supply of appropriate nutrients. Particularly important for optimal functioning of the nervous system is cobalamin (vitamin B12). Cobalamin deficiency is particularly common in the elderly and after gastric surgery. Read More

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http://dx.doi.org/10.1016/B978-0-7020-4087-0.00060-7DOI Listing
April 2014
22 Reads

Neuroenhancement with vitamin B12-underestimated neurological significance.

Nutrients 2013 Dec 12;5(12):5031-45. Epub 2013 Dec 12.

Academy of Micronutrient Medicine, Zweigertstr. 55, Essen 45130, Germany.

Vitamin B12 is a cofactor of methionine synthase in the synthesis of methionine, the precursor of the universal methyl donor S-Adenosylmethionine (SAMe), which is involved in different epigenomic regulatory mechanisms and especially in brain development. A Vitamin B12 deficiency expresses itself by a wide variety of neurological manifestations such as paraesthesias, skin numbness, coordination disorders and reduced nerve conduction velocity. In elderly people, a latent Vitamin B12 deficiency can be associated with a progressive brain atrophy. Read More

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http://dx.doi.org/10.3390/nu5125031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3875920PMC
December 2013
52 Reads

Early methyl donor deficiency may induce persistent brain defects by reducing Stat3 signaling targeted by miR-124.

Cell Death Dis 2013 Aug 8;4:e755. Epub 2013 Aug 8.

Faculté de Médecine, Inserm U954, Vandoeuvre-lès-Nancy, France.

The methyl donors folate (vitamin B9) and vitamin B12 are centrepieces of the one-carbon metabolism that has a key role in transmethylation reactions, and thus in epigenetic and epigenomic regulations. Low dietary intakes of folate and vitamin B12 are frequent, especially in pregnant women and in the elderly, and deficiency constitutes a risk factor for various diseases, including neurological and developmental disorders. In this respect, both vitamins are essential for normal brain development, and have a role in neuroplasticity and in the maintenance of neuronal integrity. Read More

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http://dx.doi.org/10.1038/cddis.2013.278DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3763440PMC
August 2013
24 Reads

[Neurological disorders related to vitamin B12 deficiency in prisons in Guinea: a 22-case study].

Bull Soc Pathol Exot 2013 Aug 21;106(3):156-9. Epub 2013 Jun 21.

Service de neurologie, CHU Conakry, Conakry, République de Guinée.

Neurological disorders related to vitamin B12 deficiency are common in prisons of tropical Africa. We collected 22 cases (20 men and 2 women). They all showed vitamin B12 deficiency associated with neurological signs that were represented by sclerosis combined with bone marrow (n = 9), peripheral neuropathy (n = 6), cerebellar syndrome (n = 2), a pyramidal syndrome of the lower limbs (n = 4) and optic neuropathy (n = 1). Read More

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http://dx.doi.org/10.1007/s13149-013-0296-7DOI Listing
August 2013
27 Reads

[Vitamin B12 deficiency due to nitrous oxide use: unrecognized cause of combined spinal cord degeneration].

Rev Med Interne 2014 May 14;35(5):328-32. Epub 2013 Jun 14.

Service de médecine interne, centre hospitalier Poissy-St-Germain, 20, rue du Champ-Gaillard, 78300 Poissy, France.

Introduction: Nitrous oxide is widely used in anesthesia. It is usually safe but may be associated with severe side effects when it is used repeatedly or on a prolonged time. Here, we report a case of drug-induced subacute combined spinal cord degeneration related to cobalamin deficiency. Read More

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http://dx.doi.org/10.1016/j.revmed.2013.04.018DOI Listing
May 2014
8 Reads