Ataxia with oculomotor apraxia type 2: a clinical, pathologic, and genetic study.

Neurology
Chiara CriscuoloC Casali

Abstract

Ataxia with oculomotor apraxia type 2 (AOA2) is characterized by onset between age 10 and 22 years, cerebellar atrophy, peripheral neuropathy, oculomotor apraxia (OMA), and elevated serum alpha-fetoprotein (AFP) levels. Recessive mutations in SETX have been described in AOA2 patients. To describe the clinical features of AOA2 and to identify the SETX mutations in 10 patients from four Italian families. The patients underwent clinical examination, routine laboratory tests, nerve conduction studies, sural nerve biopsy, and brain MRI. All were screened for SETX mutations. All the patients had cerebellar features, including limb and truncal ataxia, and slurred speech. OMA was observed in two patients, extrapyramidal symptoms in two, and mental impairment in three. High serum AFP levels, motor and sensory axonal neuropathy, and marked cerebellar atrophy on MRI were detected in all the patients who underwent these examinations. Sural nerve biopsy revealed a severe depletion of large myelinated fibers in one patient, and both large and small myelinated fibers in another. Postmortem findings are also reported in one of the patients. Four different homozygous SETX mutations were found (a large-scale deletion, a missense change, a single...Continue Reading

Citations

Jun 2, 2007·Canadian Journal of Anaesthesia = Journal Canadien D'anesthésie·Ayman RofaeelJose C A Carvalho
Jul 20, 2010·Der Nervenarzt·C ZühlkeK Bürk
Mar 20, 2008·Journal of Neurology·Ludger SchölsDagmar Timmann
Sep 4, 2007·Current Neurology and Neuroscience Reports·Matthew J ThurtellR John Leigh
Mar 12, 2013·The Cerebellum·Muriel PanouillèresCaroline Tilikete
Nov 7, 2009·Journal of Human Genetics·Katsuya NakamuraShu-Ichi Ikeda
Apr 3, 2009·Brain : a Journal of Neurology·Anne Kjersti ErichsenChantal M E Tallaksen
Feb 1, 2013·Brain : a Journal of Neurology·John J Reynolds, Grant S Stewart
Sep 12, 2009·BMC Medical Genetics·Veronica BernardChristine Zühlke
Mar 30, 2010·Neurogenetics·Marka van Blitterswijk, John E Landers
Nov 1, 2012·Diagnostic Molecular Pathology : the American Journal of Surgical Pathology, Part B·Monia Benhamed HammerRim Amouri
Apr 10, 2013·The International Journal of Neuroscience·Neil Datta, Anna Hohler
Dec 31, 2010·Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases·Michio HiranoLewis P Rowland
Nov 30, 2010·DNA Repair·Andrea De AmicisLuciana Chessa
Nov 23, 2010·Revue neurologique·M Anheim
Sep 28, 2010·Journal of the Neurological Sciences·José GazullaJorge Pinto-Basto
Jan 15, 2009·Journal of the Neurological Sciences·M TazirM Koenig
Feb 17, 2007·Lancet Neurology·Brent L Fogel, Susan Perlman
Jul 21, 2009·Muscle & Nerve·José GazullaMichel Koenig
Jun 27, 2007·American Journal of Medical Genetics. Part a·David R LynchNarasimhan Nagan
Apr 11, 2007·Acta Neurologica Scandinavica. Supplementum·J Koht, C M E Tallaksen
Nov 9, 2011·Human Mutation·Nada Al TassanSaeed Bohlega
Jan 21, 2016·Journal of Clinical Movement Disorders·Pichet TermsarasabSteven J Frucht
Nov 2, 2013·NeuroImage. Clinical·Solène FrismandCaroline Tilikete
Jan 1, 2013·Rare Diseases·Martin F LavinOlivier J Becherel
Apr 7, 2012·Cortex; a Journal Devoted to the Study of the Nervous System and Behavior·Silvia ClausiMaria G Leggio
May 13, 2014·Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia·Ricardo H RodaCraig Blackstone
Dec 3, 2014·Clinical Neurology and Neurosurgery·Joanna PeraAgnieszka Slowik
Oct 3, 2013·Journal of Neurodevelopmental Disorders·Elizabeth A WortheyLawrence D Shriberg
Oct 25, 2016·Journal of Molecular Biology·Matthias GrohNatalia Gromak
Jan 19, 2011·Arquivos de neuro-psiquiatria·Pedro Braga-NetoOrlando Graziani Povoas Barsottini

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