Ataxia with oculomotor apraxia type 2: A clinical and genetic study of 19 patients
| Autor: | A. M’zahem, Michel Koenig, J. P. Delaunoy, D. Grid, Meriem Tazir, Sonia Nouioua, Jean-Michel Vallat, Abdelmadjid Hamri, S. Assami, Traki Benhassine, M. Fritsch, Lamia Alipacha |
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| Přispěvatelé: | Laboratoire de Recherche en Neurosciences, CHU Mustapha, Service de Neurologie, Hôpital Benbadis-CHU Constantine, Service de Neurologie [CHU Limoges], CHU Limoges, Biomolécules Thérapies anti-tumorales (EA4021), Université de Limoges (UNILIM)-Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST FR CNRS 3503) |
| Rok vydání: | 2009 |
| Předmět: |
Male
Pediatrics [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology DNA Mutational Analysis Neural Conduction Nerve Fibers Myelinated Apraxia MESH: Apraxias Ocular Motility Disorders 0302 clinical medicine MESH: Neural Conduction Cerebellum Age of Onset MESH: DNA Mutational Analysis Oculomotor apraxia 0303 health sciences MESH: RNA Helicases Autosomal recessive cerebellar ataxia Pedigree MESH: Nerve Fibers Myelinated MESH: Cerebellar Ataxia 3. Good health Phenotype Neurology MESH: Young Adult Disease Progression Female MESH: Disease Progression [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC] Cerebellar atrophy alpha-Fetoproteins medicine.symptom Psychology Polyneuropathy RNA Helicases Adult medicine.medical_specialty MESH: Mutation Ataxia Adolescent Cerebellar Ataxia Apraxias MESH: Pedigree MESH: Age of Onset MESH: Atrophy MESH: Phenotype Young Adult 03 medical and health sciences [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry Molecular Biology/Genomics [q-bio.GN] medicine Humans MESH: Ocular Motility Disorders [SDV.BBM]Life Sciences [q-bio]/Biochemistry Molecular Biology 030304 developmental biology MESH: Adolescent [SDV.GEN]Life Sciences [q-bio]/Genetics MESH: Humans Cerebellar ataxia DNA Helicases MESH: Adult [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry Molecular Biology/Molecular biology medicine.disease Multifunctional Enzymes MESH: Male MESH: Cerebellum [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics Mutation Gait Ataxia MESH: alpha-Fetoproteins Neurology (clinical) Atrophy MESH: Female Neuroscience [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology 030217 neurology & neurosurgery |
| Zdroj: | Journal of the Neurological Sciences Journal of the Neurological Sciences, Elsevier, 2009, 278 (1-2), pp.77-81. ⟨10.1016/j.jns.2008.12.004⟩ |
| ISSN: | 0022-510X |
| DOI: | 10.1016/j.jns.2008.12.004 |
| Popis: | International audience; Ataxia with oculo-motor apraxia type 2 (AOA2) is a recently described autosomal recessive cerebellar ataxia (ARCA) caused by mutations in the senataxin gene (SETX). We analysed the phenotypic spectrum of 19 AOA2 patients with mutations in SETX, which seems to be the third most frequent form of ARCA in Algeria after Freidreich ataxia and Ataxia with vitamin E deficiency. In AOA2 patients, the mean age at onset for all families was in the second decade. Cerebellar ataxia was progressive, slowly leading to disability which was aggravated by axonal polyneuropathy present in almost all the patients. Mean disease duration until wheelchair was around 20 years. Oculo-motor apraxia (OMA) was present in 32% of the patients while convergent strabismus was present in 37%. Strabismus is therefore also very suggestive of AOA2 when associated with ataxia and polyneuropathy even in the absence of OMA. Cerebellar atrophy was more severe in the eldest patients; however it may also be an early sign since it was present in the youngest and paucisymptomatic patients. The initial sign was gait ataxia in all but two patients who presented with head tremor and writer cramp, respectively. Serum alpha-fetoprotein, which was elevated in all tested patients, was a good marker to suggest molecular studies of the SETX gene. |
| Databáze: | OpenAIRE |
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