Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management

摘要: While Friedreich's ataxia (FRDA) and telangiectasia (AT) are known to be the two most frequent forms of autosomal recessive cerebellar (ARCA), knowledge on other ARCA has been obtained only recently, they appear rarer. Little is about epidemiological features relative frequency ARCAs few data available comparative ARCAs. We prospectively studied 102 suspected cases from Eastern France (including 95 Alsace region) between 2002 2008. The diagnostic procedure was based a sequential strategic scheme. examined clinical, paraclinical molecular large cohort patients compared epidemiology according diagnosis. A diagnosis could established for 57 patients; 36 were affected with FRDA, seven plus oculomotor apraxia type 2 (AOA2), four AT, three 1 (AOA1), Marinesco-Sjogren syndrome, spastic Charlevoix-Saguenay (ARSACS), one vitamin E deficiency (AVED) (ARCA2). group no identified mutation had significantly lower spinocerebellar degeneration functional score corrected disease duration (SDFS/DD ratio; p = 0.002) comprised higher proportion onset after 20 years (p < 0.01). Extensor plantar reflexes rarer atrophy more in non-Friedreich all 0.0001 0.0003, respectively). Lower limb areflexia electroneuromyographic evidences peripheral neuropathy Friedreich than later 0.01, overall prevalence 1/19,000. can infer FRDA 1/50,000 that AT approximately eight times less FRDA. MSS, AOA2 ARSACS slightly AT. Despite broad variability severity, clinically distinct ARCA. Patients have often pure degenerative or phenotype. It appears divided into major groups different prognosis, an early-onset highly probable genetic cause adult-onset better prognosis which difficult prove but not excluded. rare, early-disabling genetically heterogeneous diseases dominated by Several recently ARCAs, such as AVED, ARSACS, AOA1, close should searched extensively irrespective ethnic origins. scheme useful tool clinical practice.