Ataxia with oculomotor apraxia type 1

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Description from OMIM

Ataxia-oculomotor apraxia syndrome is an early-onset autosomal recessive cerebellar ataxia with peripheral axonal neuropathy, oculomotor apraxia (defined as the limitation of ocular movements on command), and hypoalbuminemia (Moreira et al., 2001). Genetic Heterogeneity of Ataxia-Oculomotor Apraxia See also AOA2 (606002), caused by mutation in the SETX gene (608465) on chromosome 9q34; AOA3 (615217), caused by mutation in the PIK3R5 gene (611317) on chromosome 17p; and AOA4 (616267), caused by mutation in the PNKP gene (605610) on chromosome 19q13.

Prevalence of clinical parameters (%)

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Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms

Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Ataxia nervous 100 % 21465257 2011-10-19
Dysarthria nervous 100 % 21465257 2011-10-01
Nystagmus nervous 100 % 21465257 2011-10-01
Areflexia nervous 100 % 21465257 2011-10-01
Neuropathy nervous 100 % 21465257 2011-10-01
Oculomotor apraxia nervous 93 % 21465257 2011-10-27
Muscle weakness skeletal 85 % 21465257 2011-10-01
Chorea nervous 75 % 21465257 2011-10-01
Hypercholesterolemia digestive 69 % 21465257 2011-10-01
Hypoalbuminemia digestive 58 % 21465257 2011-10-01
Mental retardation nervous 40 % 21465257 2011-10-01
Babinski's sign nervous 23 % 21465257 2011-11-16

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