Warning: simplexml_load_file(http://api.omim.org/api/entry?mimNumber=208920&include=text:description&apiKey=nF1Y-SFBSLOjxS6VQpq65A): failed to open stream: HTTP request failed! HTTP/1.1 400 in /customers/0/2/d/mitodb.com/httpd.www/symptoms.php on line 485 Warning: simplexml_load_file(): I/O warning : failed to load external entity "http://api.omim.org/api/entry?mimNumber=208920&include=text:description&apiKey=nF1Y-SFBSLOjxS6VQpq65A" in /customers/0/2/d/mitodb.com/httpd.www/symptoms.php on line 485
We were unfortunately unable to download the information for this disease from OMIM.
Prevalence of clinical parameters (%)
Add new symptom/sign to this disease
List of symptoms
List of references:
Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients.
Barbara Castellotti, Caterina Mariotti, Marco Rimoldi, Roberto Fancellu, Massimo Plumari, Sara Caimi, Graziella Uziel, Nardo Nardocci, Isabella Moroni, Giovanna Zorzi, Davide Pareyson, Daniela Di Bella, Stefano Di Donato, Franco Taroni, Cinzia Gellera,
Ataxia with oculomotor apraxia type1 (AOA1, MIM 208920) is a rare autosomal recessive disease caused by mutations in the APTX gene. We screened a cohort of 204 patients with cerebellar ataxia and 52 patients with early-onset isolated chorea. APTX gene mutations were found in 13 ataxic patients (6%). Eleven patients were homozygous for the known p.W279X, p.W279R, and p.P206L mutations. Three novel APTX mutations were identified: c.477delC (p.I159fsX171), c.C541T (p.Q181X), and c.C916T (p.R306X). Expression of mutated proteins in lymphocytes from these patients was greatly decreased. No mutations were identified in subjects with isolated chorea. Two heterozygous APTX sequence variants (p.L248M and p.D185E) were found in six families with ataxic phenotype. Analyses of coenzyme Q10 in muscle, fibroblasts, and plasma demonstrated normal levels of coenzyme in five of six mutated subjects. The clinical phenotype was homogeneous, irrespectively of the type and location of the APTX mutation, and it was mainly characterized by early-onset cerebellar signs, sensory neuropathy, cognitive decline, and oculomotor deficits. Three cases had slightly raised alpha-fetoprotein. Our survey describes one of the largest series of AOA1 patients and contributes in defining clinical, molecular, and biochemical characteristics of this rare hereditary neurological condition.
Neurogenetics - Aug 2011
Warning: Use of undefined constant jump - assumed 'jump' (this will throw an Error in a future version of PHP) in /customers/0/2/d/mitodb.com/httpd.www/symptoms.php on line 715