Search Our Scientific Publications & Authors

Learn Individ Differ 2018 Jul 26;65:1-11. Epub 2018 May 26.

Department of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH, United States.

This study examined the spelling skills in middle childhood and adolescence in individuals with histories of early childhood speech sound disorders (SSD) with and without language impairment (LI). Youth without such histories were also included (No SSD/LI group). The heritability of spelling skills at each age level was estimated. Read More

Pediatr Neurol 2018 Oct 23. Epub 2018 Oct 23.

Department of Pediatrics, Jichi Medical University, Shimotsuke, Japan.

Brain 2018 Dec 12. Epub 2018 Dec 12.

Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.

Alterations of the N-methyl-d-aspartate receptor (NMDAR) subunit GluN2A, encoded by GRIN2A, have been associated with a spectrum of neurodevelopmental disorders with prominent speech-related features, and epilepsy. We performed a comprehensive assessment of phenotypes with a standardized questionnaire in 92 previously unreported individuals with GRIN2A-related disorders. Applying the criteria of the American College of Medical Genetics and Genomics to all published variants yielded 156 additional cases with pathogenic or likely pathogenic variants in GRIN2A, resulting in a total of 248 individuals. Read More

Orv Hetil 2018 Dec;159(49):2057-2064

Szent László Kórház Telephely, Dél-pesti Centrumkórház - Országos Hematológiai és Infektológiai Intézet Budapest, Albert Flórián út 5-7., 1097.

The number of primary immune deficiencies exceeds 350, approximately a quarter of them having neurological implications. Severe central nervous system infections may occur in an even higher proportion. Beyond listing in a table of all diseases with a neurological impact, the author gives detailed analysis of one typical disorder. Read More

Genes (Basel) 2018 Dec 4;9(12). Epub 2018 Dec 4.

Department of Ophthalmology, Stanford University School of Medicine, 1651 Page Mill Road, Palo Alto, CA 94305, USA.

Joubert syndrome is a group of rare disorders that stem from defects in a sensory organelle, the primary cilia. Affected patients often present with disorders involving multiple organ systems, including the brain, eyes, and kidneys. Common symptoms include breathing abnormalities, mental developmental delays, loss of voluntary muscle coordination, and abnormal eye movements, with a diagnostic "molar tooth" sign observed by magnetic resonance imaging (MRI) of the midbrain. Read More

J Speech Lang Hear Res 2018 Dec;61(12):3010-3022

Callier Center for Communication Disorders, Behavioral and Brain Sciences, University of Texas at Dallas.

Purpose: The aim of the study was to investigate the relationship between language load and articulatory variability in children with language and speech sound disorders, including childhood apraxia of speech.

Method: Forty-six children, ages 48-92 months, participated in the current study, including children with speech sound disorder, developmental language disorder (aka specific language impairment), childhood apraxia of speech, and typical development. Children imitated (low language load task) then retrieved (high language load task) agent + action phrases. Read More

Am J Speech Lang Pathol 2018 Dec 4:1-30. Epub 2018 Dec 4.

Intellectual & Developmental Disabilities Research Center, Waisman Center, University of Wisconsin-Madison.

Purpose: Speech sound disorders and velopharyngeal dysfunction are frequent features of 22q11.2 deletion syndrome (22q). We report the first estimate of the prevalence of motor speech disorders (MSDs) in youth with 22q. Read More

Front Cell Neurosci 2018 20;12:430. Epub 2018 Nov 20.

Neuroimaging Laboratory, IRCCS Santa Lucia Foundation, Rome, Italy.

The role of the cerebellum in cognitive function has been broadly investigated in the last decades from an anatomical, clinical, and functional point of view and new evidence points toward a significant contribution of the posterior lobes of the cerebellum in cognition in Alzheimer's disease (AD). In the present work we used SUIT-VBM (spatially unbiased infratentorial template, voxel-based morphometry) to perform an analysis of the pattern of cerebellar gray matter (GM) atrophy in amnestic mild cognitive impairment (a-MCI) and AD dementia patients compared to healthy subjects (HS), in order to follow the changes of non-motor features of cerebellar degeneration throughout disease progression. This template has been validated to guarantee a significant improvement in voxel-to-voxel alignment of the individual fissures and the deep cerebellar nuclei compared to Montreal Neurological Institute (MNI) whole-brain template. Read More

Front Aging Neurosci 2018 14;10:338. Epub 2018 Nov 14.

Center of Cognitive Neurology, Lariboisiere Fernand-Widal Hospital, APHP, University Paris Diderot, Paris, France.

Alzheimer's disease (AD) is marked by memory disturbances followed by aphasia, apraxia and agnosia. Brain lesions include the accumulation of the amyloid peptide in extracellular plaques, neurofibrillary tangles with abnormally phosphorylated tau protein and synaptic and neuronal loss. New findings have suggested that brain lesions could occur one or two decades before the first clinical signs. Read More

Clin Linguist Phon 2018 Nov 28:1-17. Epub 2018 Nov 28.

a Department of Allied Health Sciences , University of North Carolina at Chapel Hill School of Medicine , Chapel Hill , NC , USA.

Impaired production of prosody is considered a primary diagnostic criterion for apraxia of speech. In this study, we examined diagnostic relevance for five word-level prosody measures. Seven speakers with AOS, nine with aphasia and no AOS, and 19 age-matched neurotypical controls produced nine words consisting of three or four syllables. Read More

Am J Speech Lang Pathol 2018 Nov;27(4):1303-1318

Department of Neurology, Mayo Clinic, Rochester, MN.

Purpose: This case series details the clinical progression of patients with primary progressive apraxia of speech (PPAOS) to illustrate, using several methods and supplemental material examples, the changes that occur in speech and language functioning in this patient population.

Method: Four patients who presented with PPAOS were followed between 5 and 6 years. Two patients had predominant articulatory abnormalities (termed phonetic PPAOS), 1 had predominant prosodic abnormalities (prosodic PPAOS), and 1 had relatively equal articulatory and prosodic abnormalities (mixed PPAOS). Read More

Front Neurol 2018 1;9:939. Epub 2018 Nov 1.

System Emotional Science, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, Toyama, Japan.

Although motor training programs have been applied to childhood apraxia of speech (AOS), the neural mechanisms of articulation learning are not well understood. To this aim, we recorded cerebral hemodynamic activity in the left hemisphere of healthy subjects ( = 15) during articulation learning. We used near-infrared spectroscopy (NIRS) while articulated voices were recorded and analyzed using spectrograms. Read More

Can J Neurol Sci 2018 Nov;45(6):686-687

1Division of Neurology,Department of Medicine,University of Toronto,Toronto,Ontario,Canada.

Eur J Med Genet 2018 Nov 10. Epub 2018 Nov 10.

Centre for Arab Genomic Studies, Dubai, United Arab Emirates.

Joubert syndrome (JS) is an autosomal or X-linked recessive syndrome principally characterized by hypotonia, ataxia, cognitive impairment, and a specific finding on brain imaging called a "molar tooth sign" (MTS), which can be isolated or in conjunction with variable organ involvement. The genetic basis of JS is heterogeneous, with over 35 ciliary genes being implicated in its pathogenesis. However, some of these genes (such as PDE6D) have been associated to JS only in single families, seeking confirmation. Read More

Brain Topogr 2018 Nov 8. Epub 2018 Nov 8.

School of Psychology, University of Nottingham, Nottingham, UK.

Results from neuropsychological studies, and neuroimaging and behavioural experiments with healthy individuals, suggest that the imitation of meaningful and meaningless actions may be reliant on different processing routes. The left posterior middle temporal gyrus (pMTG) is one area that might be important for the recognition and imitation of meaningful actions. We studied the role of the left pMTG in imitation using repetitive transcranial magnetic stimulation (rTMS) and two-person motion-tracking. Read More

Appl Clin Genet 2018 17;11:107-110. Epub 2018 Oct 17.

Medical Genomic Research Department, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia,

Gaucher disease is the most common sphingolipid storage disease and is present in all ethnic groups. Its symptoms span all systems including the cardiovascular system. The health care provider should be vigilant regarding this potentially fatal complication. Read More

Int Rev Neurobiol 2018 29;142:37-65. Epub 2018 Aug 29.

University Hospital and Julius-Maximilians University, Würzburg, Germany. Electronic address:

Atypical parkinsonism is the second most common diagnosis for patients with hypokinetic movement disorders. Beside common parkinsonian symptoms (i.e. Read More

Front Neurol 2018 22;9:853. Epub 2018 Oct 22.

Restorative Neurology Clinic, Burke Neurological Institute, White Plains, NY, United States.

This study aimed to determine the extent to which robotic arm rehabilitation for chronic stroke may promote recovery of speech and language function in individuals with aphasia. We prospectively enrolled 17 individuals from a hemiparesis rehabilitation study pairing intensive robot assisted therapy with sham or active tDCS and evaluated their speech ( = 17) and language ( = 9) performance before and after a 12-week (36 session) treatment regimen. Performance changes were evaluated with paired -tests comparing pre- and post-test measures. Read More

Parkinsonism Relat Disord 2018 Oct 26. Epub 2018 Oct 26.

Division of Neurology, Department of Clinical Medicine, Universidade Federal do Ceará, Brazil; Neurology Service, Hospital Geral de Fortaleza, Fortaleza, Ceará, Brazil; Center of Health Sciences, Universidade Estadual do Ceará, Brazil. Electronic address:

Background: There are few studies reporting characteristics of patients with cerebellar ataxias in the Brazilian population. The aim of this study was to provide a detailed neurological description of patients with hereditary ataxia followed by a neurology outpatient service in Brazil.

Methods: Neurological and clinical evaluation of patients with hereditary ataxia was performed at a neurology service outpatient clinic of a hospital in Northeast Brazil between October 2013 and January 2015. Read More

Neuropsychologia 2018 Dec 25;121:175-185. Epub 2018 Oct 25.

Dipartimento di Psicologia, Università degli Studi di Milano-Bicocca, Milano, Italy; Centro di Neuroscienze di Milano, Milano, Italy.

Phonological and articulatory programming impairments may co-occur in aphasic patients and previous research does not offer a clear-cut picture of their anatomical counterparts. Hickok and Poeppel (2007) put forward a seminal model of speech processes. The ventral stream (mostly bilateral) would be involved in speech recognition and phonological-lexical processing, whereas the dorsal stream (largely lateralized to the left hemisphere) would map phonological representations onto articulatory motor patterns. Read More

Mol Genet Metab Rep 2018 Dec 18;17:69-72. Epub 2018 Oct 18.

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.

Gaucher disease (GD) is an autosomal recessive condition that results from a deficiency of the enzyme β-glucocerebrosidase. The increased risk of primary parkinsonism symptoms among individuals affected with GD and carriers for the disorder is well-documented in the literature. However, these risks and case reports often reflect patients with classical Parkinson's disease (PD) symptoms. Read More

Mov Disord Clin Pract 2018 Mar-Apr;5(2):156-159. Epub 2018 Jan 25.

Neurocenter Luzerner Kantonsspital Luzern Switzerland.

Background: Impaired dexterity is a common symptom in Parkinson's disease (PD) and has been related to limb kinetic apraxia (LKA). LKA negatively influenced activities of daily living (ADL) in PD. However, the impact on quality of life (QoL) remains to be clarified, which was the aim of the current study. Read More

Front Psychol 2018 13;9:1617. Epub 2018 Sep 13.

Laboratory for Cognition and Neural Stimulation, Neurology Department, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States.

Closing-in behavior (CIB) is observed in copying tasks (graphic or gestural) when the copy is performed near or on the top of the model. This symptom has been classically considered to be a manifestation of constructional apraxia and is often associated with a visuospatial impairment. More recent work emphasizes the attentional and/or executive nature of the behavior and its association with frontal lobe dysfunction. Read More

J Neurol Neurosurg Psychiatry 2018 Oct 10. Epub 2018 Oct 10.

Department of Neurology, University Hospital Münster, Münster, Germany

Objectives: Frontotemporal dementia (FTD) is a heterogeneous clinical syndrome linked to diverse types of underlying neuropathology. Diagnosis is mainly based on clinical presentation and accurate prediction of underlying neuropathology remains difficult.

Methods: We present a large cohort of patients with FTD spectrum diseases (n=84). Read More

Brain Dev 2018 Oct 6. Epub 2018 Oct 6.

Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan. Electronic address:

Objectives: Defects in DNA damage responses or repair mechanisms cause numerous rare inherited diseases, referred to as "DNA-repair defects" or "DNA damage deficiency", characterized by neurodegeneration, immunodeficiency, and/or cancer predisposition. Early accurate diagnosis is important for informing appropriate clinical management; however, diagnosis is frequently challenging and can be delayed, due to phenotypic heterogeneity. Comprehensive genomic analysis could overcome this disadvantage. Read More

Int J Speech Lang Pathol 2018 Oct 9:1-15. Epub 2018 Oct 9.

c Faculty of Health Sciences , University of Sydney , Sydney , Australia.

Purpose: To assist in remote treatment, speech-language pathologists (SLPs) rely on mobile games, which though entertaining, lack feedback mechanisms. Games integrated with automatic speech recognition (ASR) offer a solution where speech productions control gameplay. We therefore performed a feasibility study to assess children's and SLPs' experiences towards speech-controlled games, game feature preferences and ASR accuracy. Read More

Aphasiology 2018 2;32(8):902-921. Epub 2017 Oct 2.

Dept. of Communication Sciences and Disorders, Arnold School of Public Health, University of South Carolina.

Background: Apraxia of Speech (AOS) has been associated with deviations in consonantal voice-onset-time (VOT), but studies of vowel acoustics have yielded conflicting results. However, a speech motor planning disorder that is not bound by phonological categories is expected to affect vowel as well as consonant articulations.

Aims: We measured consonant VOTs and vowel formants produced by a large sample of stroke survivors, and assessed to what extent these variables and their dispersion are predictive of AOS presence and severity, based on a scale that uses clinical observations to rate gradient presence of AOS, aphasia, and dysarthria. Read More

J Paediatr Child Health 2018 Oct;54(10):1090-1095

Department of Neurology and Neurosurgery, Children's Hospital, Sydney, New South Wales, Australia.

Childhood apraxia of speech (CAS) is a rare disorder of childhood that can leave a watermark of the impacts throughout the lifetime. Since being first described in the 1950s, aetiological insights have been limited. At a neurobiological level, clinical MRI scans fail to reveal overt neural anomalies in individual cases with CAS, although quantitative MRI methods have revealed subtle brain anomalies at a group level. Read More

Restor Neurol Neurosci 2018 ;36(6):669-678

Department of Neurology, University Hospital Cologne, Cologne, Germany.

Background And Objective: Apraxia is a deficit of motor cognition leading to difficulties in actual tool use, imitation of gestures, and pantomiming object use. To date, little data exist regarding the recovery from apraxic deficits after stroke, and no statistical lesion mapping study investigated the neural correlate of recovery from apraxia. Accordingly, we here examined recovery from apraxic deficits, differential associations of apraxia task (imitation vs. Read More

Radiol Case Rep 2018 Dec 20;13(6):1242-1245. Epub 2018 Sep 20.

Department of Neuro-radiology, Queen Elizabeth University hospital, 1345 Govan road, Glasgow G51 4TF, United Kingdom.

Balint's syndrome is a rare disorder characterized by a triad of simultanagnosia, optic apraxia, and ocular apraxia. The syndrome manifests when there is an injury to the posterior parietal and occipital lobes and is often bilateral. Several causes of this syndrome were published in the literature, such as trauma, infarctions, infections, tumors, and pre-eclampsia. Read More

Front Neurol 2018 27;9:709. Epub 2018 Aug 27.

Neurorehabilitation Research Center, Kio University, Nara, Japan.

Limb apraxia is a higher brain dysfunction that typically occurs after left hemispheric stroke and its cause cannot be explained by sensory disturbance or motor paralysis. The comparison of motor signals and visual feedback to generate errors, i.e. Read More

Int J Mol Sci 2018 Sep 2;19(9). Epub 2018 Sep 2.

Department of Neurology, Seoul National University College of Medicine & Neurocognitive Behavior Center, Seoul National University Bundang Hospital, Sungnam 13620, Korea.

An in depth study of mutation p.Thr116Ile (c.335C>T) is presented from two Korean families with autosomal dominant inheritance. Read More

Clin Linguist Phon 2018 Sep 10:1-18. Epub 2018 Sep 10.

a Speech Pathology , The University of Sydney , Australia.

There is continuing debate about the origins of productive morphological errors in children with speech sound disorders. This is the case for children with theorised phonetic and motor disorders, such as children with childhood apraxia of speech (CAS, e.g. Read More

J Clin Neurol 2018 Oct 12;14(4):498-504. Epub 2018 Jul 12.

School of Biological Sciences, University of the Punjab, Lahore, Pakistan.

Background And Purpose: Autosomal recessive cerebellar ataxias constitute a highly heterogeneous group of neurodegenerative disorders. This study was carried out to determine the clinical and genetic causes of ataxia in two families from Pakistan.

Methods: Detailed clinical investigations were carried out on probands in two consanguineous families. Read More

Brain Struct Funct 2018 Dec 5;223(9):4211-4226. Epub 2018 Sep 5.

Department of Cognitive Neuroscience, Donders Institute for Brain, Cognition and Behaviour, Radboudumc, 6525 HR, Nijmegen, The Netherlands.

Heterozygous mutations of the Forkhead-box protein 2 (FOXP2) gene in humans cause childhood apraxia of speech. Loss of Foxp2 in mice is known to affect striatal development and impair motor skills. However, it is unknown if striatal excitatory/inhibitory balance is affected during development and if the imbalance persists into adulthood. Read More

Ann Rehabil Med 2018 Aug 31;42(4):560-568. Epub 2018 Aug 31.

Department of Rehabilitation Medicine, Dong-Eui Medical Center, Busan, Korea.

Objective: To investigate the characteristics and risk factors of dysphagia using the videofluoroscopic dysphagia scale (VDS) with a videofluoroscopic swallowing study (VFSS) in patients with acute cerebral infarctions.

Methods: In this retrospective study, the baseline VFSS in 275 stroke patients was analyzed. We divided patients into 8 groups according to lesion areas commonly observed on brain magnetic resonance imaging. Read More

Neuroimage 2018 Dec 27;183:800-810. Epub 2018 Aug 27.

Centre for Advanced Imaging, University of Queensland, Brisbane, Australia.

The controlled semantic cognition framework proposes that the ventral anterior temporal lobes (vATL) in the left and right hemisphere function as an integrated hub region supporting transmodal semantic representations. The clinical evidence for the transmodal function of vATL is largely based on studies of semantic dementia patients with severe anomia, who also show impaired performance on nonverbal tasks that involve the retrieval of knowledge about objects and their prototypical use, such as the production of tool use pantomimes. Yet, evidence from patients with apraxia and functional neuroimaging studies in healthy adults does not implicate vATL in pantomime production. Read More

Front Genet 2018 15;9:317. Epub 2018 Aug 15.

Department of Neurology and Clinical Neuroscience, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden.

Dual pathology in fragile X mental retardation 1 ( premutation carriers and fragile X-associated tremor/ataxia syndrome (FXTAS) patients is an emerging phenomenon. Although it includes atypical parkinsonism, neuropathological confirmation is very scarce. Here, we describe neuropathological findings for a female who suffered a severe parkinsonian syndrome with apraxia and supranuclear palsy. Read More

Front Neurol 2018 10;9:653. Epub 2018 Aug 10.

Division of Neurology, Department of Internal Medicine, School of Medicine, Showa University, Tokyo, Japan.

Diagonistic apraxia is a corpus callosal disconnection syndrome. Callosal lesions in Neuromyelitis optica spectrum disorder (NMOSD) have been reported, but callosal disconnection syndrome are rare. A 48-year-old woman was treated for fever and a cough before hospitalization. Read More

Dement Geriatr Cogn Disord 2018 24;46(1-2):50-59. Epub 2018 Aug 24.

Department of Neurology, Erasmus MC University Medical Centre, Rotterdam, the Netherlands.

Deficits in copying ("constructional apraxia") is generally defined as a multifaceted deficit. The exact neural correlates of the different types of copying errors are unknown. To assess whether the different categories of errors on the pentagon drawing relate to different neural correlates, we examined the pentagon drawings of the MMSE in persons with subjective cognitive complaints, mild cognitive impairment, or early dementia due to Alzheimer's disease. Read More

Front Neurol 2018 8;9:660. Epub 2018 Aug 8.

Chair of Human Movement Science, Department of Sport and Health Sciences, Technical University of Munich, Munich, Germany.

Apraxia is stated independent of primary motor disorders. However, patient groups suffering from stroke or dementia can reveal motor impairments. In this study we examined the dependence of apraxia tests of imitation and pantomime on a latent motor component using a principal component analysis. Read More

Acta Psychol (Amst) 2018 Oct 16;190:174-187. Epub 2018 Aug 16.

University of Alberta, Canada. Electronic address:

In pantomiming the use of tools, it is possible to use a body part as the object (BPO) or imagine the object (IO). The present four studies test how conceptualizing the functions of objects may underlie BPO production in a non-clinical adult population. We showed that familiar vs. Read More

Am J Speech Lang Pathol 2018 Nov;27(4):1352-1362

Health Sciences Center, School of Health Technology and Management, Stony Brook University, NY.

Purpose: The purpose of this study was to assess the efficacy. of increasing spontaneous expressive language using a modified melodic intonation therapy (MIT) approach with a male participant diagnosed with acquired aphasia and apraxia who was 10 years post onset.

Method: A therapeutic protocol consisting of vocal and linguistic tasks was administered. Read More

Autism Res 2018 Sep 14;11(9):1286-1299. Epub 2018 Aug 14.

State University of New York Upstate Medical University, Departments of Neuroscience and Physiology, Syracuse, NY.

Autism spectrum disorder (ASD) is associated with several oropharyngeal abnormalities, including buccal sensory sensitivity, taste and texture aversions, speech apraxia, and salivary transcriptome alterations. Furthermore, the oropharynx represents the sole entry point to the gastrointestinal (GI) tract. GI disturbances and alterations in the GI microbiome are established features of ASD, and may impact behavior through the "microbial-gut-brain axis. Read More

Proc Natl Acad Sci U S A 2018 08 13;115(35):8799-8804. Epub 2018 Aug 13.

Bio-X-Renji Hospital Research Center, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, 200240 Shanghai, China;

Fundamental human traits, such as language and bipedalism, are associated with a range of anatomical adaptations in craniofacial shaping and skeletal remodeling. However, it is unclear how such morphological features arose during hominin evolution. FOXP2 is a brain-expressed transcription factor implicated in a rare disorder involving speech apraxia and language impairments. Read More

J Neurol Sci 2018 Aug 7;391:1-2. Epub 2018 May 7.

Department of Neurology, Keimyung University School of Medicine, Daegu, Republic of Korea. Electronic address:

J Speech Lang Hear Res 2018 Sep;61(9):2337-2346

Department of Radiology, Mayo Clinic, Rochester, MN.

Purpose: The aims of the study were to assess and compare grammatical deficits in written and spoken language production in subjects with agrammatic primary progressive aphasia (agPPA) and in subjects with agrammatism in the context of dominant apraxia of speech (DAOS) and to investigate neuroanatomical correlates.

Method: Eight agPPA and 21 DAOS subjects performed the picture description task of the Western Aphasia Battery (WAB) both in writing and orally. Responses were transcribed and coded for linguistic analysis. Read More

Indian J Psychol Med 2018 Jul-Aug;40(4):398

[This corrects the article on p. 284 in vol. 40, PMID: 29875540. Read More

Neurosci Biobehav Rev 2018 Dec 4;95:44-60. Epub 2018 Aug 4.

Laboratoire d'Etude des Mécanismes Cognitifs (EA 3082), Université Lyon 2, France.

The aim of the present review is to investigate the cerebral correlates, more particularly the role of the parietal lobe, when imitating intransitive gestures, a task highly sensitive to apraxic errors. By providing an integrative review of functional imaging and brain lesion studies, we focused our attention on the meaning of gestures (meaningful and meaningless) and the body parts (finger and hand). We found that imitation of intransitive gestures is relying upon a bilateral brain network including fronto-parietal areas irrespective of meaning or body parts. Read More

Ophthalmology 2018 Dec 25;125(12):1937-1952. Epub 2018 Jul 25.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland; Johns Hopkins University School of Medicine, Department of Pediatrics and McKusick-Nathans Institute of Genetic Medicine, Baltimore, Maryland.

Purpose: Joubert syndrome (JS) is caused by mutations in >34 genes that encode proteins involved with primary (nonmotile) cilia and the cilium basal body. This study describes the varying ocular phenotypes in JS patients, with correlation to systemic findings and genotype.

Design: Patients were systematically and prospectively examined at the National Institutes of Health (NIH) Clinical Center in the setting of a dedicated natural history clinical trial. Read More