Publications by authors named "Alessandra Tessa"

90Publications

A new paraplegin mutation in a patient with primary progressive multiple sclerosis.

Mult Scler Relat Disord 2020 Sep 14;44:102302. Epub 2020 Jun 14.

Department of Neurology, AOU Careggi, Largo Palagi 1, Firenze 50139, Italy. Electronic address:

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September 2020

Docosahexaenoic acid in ARSACS: observations in two patients.

BMC Neurol 2020 May 28;20(1):215. Epub 2020 May 28.

Molecular Medicine, IRCCS Fondazione Stella Maris, via dei Giacinti 2- 56128 Calambrone-, Pisa, Italy.

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May 2020

Distal motor neuropathy associated with novel EMILIN1 mutation.

Neurobiol Dis 2020 04 21;137:104757. Epub 2020 Jan 21.

Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy; Paediatric Neurology and Neuromuscular Disorders Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy. Electronic address:

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April 2020

Clinical and molecular studies in two new cases of ARSACS.

Neurogenetics 2019 03 24;20(1):45-49. Epub 2019 Jan 24.

Molecular Medicine, IRCCS Fondazione Stella Maris, via dei Giacinti 2 Calambrone, 56128, Pisa, Italy.

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March 2019

A novel homozygous MFN2 mutation associated with severe and atypical CMT2 phenotype.

Eur J Paediatr Neurol 2018 May 5;22(3):563-567. Epub 2018 Jan 5.

Department of Pediatrics, University of L'Aquila, L'Aquila, Italy. Electronic address:

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May 2018

Primary familial brain calcification with a novel SLC20A2 mutation: Analysis of PiT-2 expression and localization.

J Cell Physiol 2018 Mar 18;233(3):2324-2331. Epub 2017 Sep 18.

Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.

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March 2018

SPG2 mimicking multiple sclerosis in a family identified using next generation sequencing.

J Neurol Sci 2017 Apr 27;375:198-202. Epub 2017 Jan 27.

Unit of Neurology and Neurometabolic Disorders, Department of Medicine, Surgery and Neurosciences, University of Siena, Italy, Azienda Ospedaliera Universitaria Senese, Siena. Electronic address:

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April 2017

A series of Greek children with pure hereditary spastic paraplegia: clinical features and genetic findings.

J Neurol 2016 Aug 3;263(8):1604-11. Epub 2016 Jun 3.

First Department of Pediatrics, Aghia Sophia Children's Hospital, University of Athens, Thivon and Micras Asias, 11527, Athens, Greece.

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August 2016

Spinocerebellar Ataxia Type 3 in Italy: Time to Change Mind.

Neuroepidemiology 2016 19;46(4):268. Epub 2016 Mar 19.

Department of Medico-Surgical Sciences and Biotechnologies, Rome Sapienza University, Rome, Italy.

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March 2018

Heterologous Expression in Yeast of Human Ornithine Carriers ORNT1 and ORNT2 and of ORNT1 Alleles Implicated in HHH Syndrome in Humans.

JIMD Rep 2016 21;28:119-126. Epub 2015 Nov 21.

Clinical genetics Unit, Department of Woman and Child Health, University of Padova, Via Giustiniani 3, 35128, Padova, Italy.

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November 2015

Treatment of SPG5 with cholesterol-lowering drugs.

J Neurol 2015 Dec 14;262(12):2783-5. Epub 2015 Nov 14.

Unit of Neurology and Neurometabolic Disorders, Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.

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December 2015

Hereditary spastic paraplegia type 11 with a very late onset.

J Neurol 2015 Aug 17;262(8):1987-9. Epub 2015 Jul 17.

Molecular Medicine, IRCCS Stella Maris, Pisa, Italy.

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August 2015

Acute optic neuropathy associated with a novel MFN2 mutation.

J Neurol 2015 Jul 10;262(7):1678-80. Epub 2015 May 10.

Dept. Scienze e Biotecnologie Medico-Chirurgiche, Rome Sapienza University Polo Pontino, Rome, Italy,

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July 2015

De novo mutations in SPG3A: a challenge in differential diagnosis and genetic counselling.

Neurol Sci 2015 Jun 31;36(6):1063-4. Epub 2015 Jan 31.

Department of Medical-Surgical Sciences and Biotechnologies, Polo Pontino-Sapienza University of Rome, Latina, Italy.

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June 2015

Muscle fiber type disproportion (FTD) in a family with mutations in the LMNA gene.

Muscle Nerve 2015 Apr 24;51(4):604-8. Epub 2015 Feb 24.

Department of Neurosciences, Reproductive and Odontostomatological Sciences, University Federico II of Naples, Via Sergio Pansini 5, 80131, Naples, Italy.

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April 2015

Spinocerebellar ataxia type 10 in Peru: the missing link in the Amerindian origin of the disease.

J Neurol 2014 Sep 17;261(9):1691-4. Epub 2014 Jun 17.

Department of Medico-Surgical Sciences and Biotechnologies, Sapienza University of Rome, Polo Pontino, Latina, Italy.

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September 2014

Hand muscles corticomotor excitability in hereditary spastic paraparesis type 4.

Neurol Sci 2014 Aug 20;35(8):1287-91. Epub 2014 Mar 20.

Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy.

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August 2014

Sensory ataxia as a prominent clinical presentation in three families with mutations in CYP7B1.

J Neurol 2014 Apr 12;261(4):747-51. Epub 2014 Feb 12.

Department of Medico-Surgical Sciences and Biotechnologies, "Sapienza" University of Rome, Corso della Repubblica, 79, 04100, Latina, Italy,

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April 2014

Hereditary spastic paraplegia type 5: a potentially treatable disorder of cholesterol metabolism.

J Neurol 2014 Mar 8;261(3):617-9. Epub 2014 Feb 8.

Unit of Neurology and Neurometabolic Disorders, Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.

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March 2014

Cerebellum and neuropsychiatric disorders: insights from ARSACS.

Neurol Sci 2014 Jan 7;35(1):95-7. Epub 2013 Dec 7.

Unit of Neurology and Neurometabolic Disorders, Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.

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January 2014

The high prevalence of hereditary spastic paraplegia in Sardinia, insular Italy.

J Neurol 2014 Jan 20;261(1):52-9. Epub 2013 Oct 20.

Department of Clinical and Experimental Medicine, University of Sassari, Viale San Pietro 10, Sassari, Italy.

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January 2014

Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome in adulthood: a rare recognizable condition.

Neurol Sci 2013 Sep 18;34(9):1699-701. Epub 2012 Dec 18.

Clinical Neurology, Section for Neuromuscular Diseases and Neuropathies, University Hospital "Spedali Civili", Pz.le Spedali Civili 1, 25100, Brescia, Italy,

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September 2013

Involvement of the mitochondrial compartment in human NCL fibroblasts.

Biochem Biophys Res Commun 2011 Dec 11;416(1-2):159-64. Epub 2011 Nov 11.

Department of Neurological, Psychological, Morphological and Motor Sciences, Divisions of Neurology (Child Neurology) and Neuropathology, University of Verona Medical School, Verona, Italy.

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December 2011

New findings in the ataxia of Charlevoix-Saguenay.

J Neurol 2012 May 13;259(5):869-78. Epub 2011 Oct 13.

Service of Neurology, Hospital Universitario Miguel Servet, Avenida Isabel la Católica, 1-3, 50009, Zaragoza, Spain.

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May 2012

Infantile childhood onset of spinocerebellar ataxia type 2.

Cerebellum 2012 Jun;11(2):526-30

Department of Medico-Surgical Sciences and Biotechnologies, Sapienza University of Rome, Via Francesco Faggiana 34, Latina, Italy.

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June 2012

Molecular investigation of pediatric portuguese patients with sensorineural hearing loss.

Genet Res Int 2011 25;2011:587602. Epub 2011 Sep 25.

Genetics Department, Medical Genetics Center, National Institute of Health (INSA), Praça Pedro Nunes 88, 4099-028 Porto, Portugal.

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August 2012

Late-onset MNGIE without peripheral neuropathy due to incomplete loss of thymidine phosphorylase activity.

Neuromuscul Disord 2009 Dec 22;19(12):837-40. Epub 2009 Oct 22.

Department of Neurosciences, University of Rome-Tor Vergata and IRCCS-Fondazione S. Lucia, Via Montpellier 1, I-00135 Rome, Italy.

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December 2009

Rippling muscle disease and cardiomyopathy associated with a mutation in the CAV3 gene.

Neuromuscul Disord 2009 Nov 20;19(11):779-83. Epub 2009 Sep 20.

Department of Neuroscience, Institute of Neurology, Catholic University, Largo Agostino Gemelli 8, 00168 Rome, Italy.

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November 2009

White matter lesions in spastic paraplegia with mutations in SPG5/CYP7B1.

Neuromuscul Disord 2009 Jan;19(1):62-5

IRCCS G. Gaslini Pediatric Institute and University of Genoa, Unit of Muscular and Neurodegenerative Diseases, IRCCS Bambino Gesù Children's Hospital, Piazza S. Onofrio 4, 00165 Rome, Italy.

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January 2009

Heart transplantation in a child with LGMD2I presenting as isolated dilated cardiomyopathy.

Neuromuscul Disord 2008 Feb 3;18(2):153-5. Epub 2007 Dec 3.

Molecular Medicine, Bambino Gesù Children's Research Hospital, P.zza S.Onofrio 4, 00165 Rome, Italy.

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February 2008

POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes.

Biochem Biophys Res Commun 2007 Nov 25;363(4):1033-7. Epub 2007 Sep 25.

Muscular and Neurodegenerative Disease Unit, G. Gaslini Institute and University of Genova, Largo Gaslini 5, 16147 Genova, Italy.

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November 2007

A new mtDNA-tRNA(Glu) mutation (14728T>C) presenting a late-onset mitochondrial encephalomyopathy.

Mitochondrion 2007 Dec 19;7(6):396-8. Epub 2007 Aug 19.

Instituto de Genética Médica, Jacinto de Magalhães, Praça Pedro Nunes, 88, 4099-028 Porto, Portugal.

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December 2007

Infantile mitochondrial disorders.

Biosci Rep 2007 Jun;27(1-3):105-12

Molecular Medicine, IRCCS Bambino Gesù Hospital, Piazza S. Onofrio 4, 00165, Rome, Italy.

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June 2007

The NDUFB11 gene is not a modifier in Leber hereditary optic neuropathy.

Biochem Biophys Res Commun 2007 Mar 2;355(1):181-7. Epub 2007 Feb 2.

Department of Medical Biochemistry, Medical Biology and Medical Physics, University of Bari, Piazza G. Cesare 11, 70124 Bari, Italy.

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March 2007

Identification of a new mtDNA mutation (14724G>A) associated with mitochondrial leukoencephalopathy.

Biochem Biophys Res Commun 2007 Mar 23;354(4):937-41. Epub 2007 Jan 23.

Instituto de Genética Médica Jacinto de Magalhães, Praça Pedro Nunes, 88, 4099-028 Porto, Portugal.

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March 2007

Novel CLN1 mutation in two Italian sibs with late infantile neuronal ceroid lipofuscinosis.

Eur J Paediatr Neurol 2006 May 8;10(3):154-6. Epub 2006 Jun 8.

Division of Infantile, Neuropsychiatry, Department of Medical and Surgical Pediatrics, University of Messina, via Consolare Valeria 98125 Messina, Italy.

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May 2006

"Bartter-like" phenotype in Kearns-Sayre syndrome.

Pediatr Nephrol 2006 Mar 29;21(3):355-60. Epub 2005 Dec 29.

Department of Nephrology and Urology, Division of Nephrology, Bambino Gesù Children's Hospital and Research Institute, Rome, Italy.

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March 2006

The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy.

J Neurol 2005 Aug 8;252(8):901-3. Epub 2005 Mar 8.

Dipartimento di Scienze Neurologiche, Università degli Studi di Napoli Federico II, Via Pansini 5, 80131, Napoli, Italy.

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August 2005

Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype.

Arch Neurol 2004 Feb;61(2):269-72

First Division of Neurology, Department of Neurological Sciences, Second University of Naples, School of Medicine, Poclinico Universitario Federico II, Italy.

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February 2004

Progressive exercise intolerance associated with a new muscle-restricted nonsense mutation (G142X) in the mitochondrial cytochrome b gene.

Muscle Nerve 2003 Oct;28(4):508-11

Neuromuscular Diseases Unit, Department of Pediatrics, University of Genova, Giannina Gaslini Institute, Largo G. Gaslini 5, I-16147, Genova, Italy.

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October 2003