[Autosomal recessive cerebellar ataxias].
Friedreich ataxia is the most frequent recessive cerebral ataxia d should always be researched first. Ataxia with isolated vitamin E deficiency and abetalipoproteinemia have a specific treatment. Associated neurological signs such polyneuroapthy, ophtalmologic or oculomotor signs, pyramidal signs, and cerebellar MRI can lead to the etiological diagnosis. Biological tests should be: vitamin E, cholesterol, alpha-fetoprotein levels, acanthocytes, than phytanic acid, cholestanol, lysosomal enzymes. Numerous autosomal recessive cerebellar ataxia remain without etiology.
Tranchant
Christine
C
Clinique neurologique, Hôpitaux universitaires, F-67091 Strasbourg Cedex, France. christine.tranchant@chru-strasbourg.fr
Anheim
Mathieu
M
D000012:Abetalipoproteinemia / Q000145:classification / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D000293:Adolescent; D000483:Alleles; D002524:Cerebellar Ataxia / Q000145:classification / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D002531:Cerebellum / Q000473:pathology; D002648:Child; D002869:Chromosome Aberrations; D004252:DNA Mutational Analysis; D004260:DNA Repair / Q000235:genetics; D004272:DNA, Mitochondrial / Q000235:genetics; D003937:Diagnosis, Differential; D005621:Friedreich Ataxia / Q000145:classification / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D005808:Genes, Recessive / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008279:Magnetic Resonance Imaging; D009422:Nervous System Diseases / Q000145:classification / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D009460:Neurologic Examination; D010641:Phenotype; D011379:Prognosis; D013116:Spinal Cord / Q000473:pathology; D014811:Vitamin E Deficiency / Q000145:classification / Q000175:diagnosis / Q000235:genetics / Q000628:therapy
D004272:DNA, Mitochondrial