RGD Reference Report - Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients. - Rat Genome Database

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Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients.

Authors: Castellotti, B  Mariotti, C  Rimoldi, M  Fancellu, R  Plumari, M  Caimi, S  Uziel, G  Nardocci, N  Moroni, I  Zorzi, G  Pareyson, D  Di Bella, D  Di Donato, S  Taroni, F  Gellera, C 
Citation: Castellotti B, etal., Neurogenetics. 2011 Aug;12(3):193-201. doi: 10.1007/s10048-011-0281-x. Epub 2011 Apr 5.
RGD ID: 10054301
Pubmed: PMID:21465257   (View Abstract at PubMed)
DOI: DOI:10.1007/s10048-011-0281-x   (Journal Full-text)

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.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
APTXHumanataxia with oculomotor apraxia type 1  IAGP DNA:mutations:multiple:RGD 
AptxRatataxia with oculomotor apraxia type 1  ISOAPTX (Homo sapiens)DNA:mutations:multiple:RGD 
AptxMouseataxia with oculomotor apraxia type 1  ISOAPTX (Homo sapiens)DNA:mutations:multiple:RGD 
APTXHumanolivopontocerebellar atrophy  IAGP DNA:missense mutations:cds:725G>A and 457A>G(human)RGD 
AptxRatolivopontocerebellar atrophy  ISOAPTX (Homo sapiens)DNA:missense mutations:cds:725G>A and 457A>G(human)RGD 
AptxMouseolivopontocerebellar atrophy  ISOAPTX (Homo sapiens)DNA:missense mutations:cds:725G>A and 457A>G(human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Aptx  (aprataxin)

Genes (Mus musculus)
Aptx  (aprataxin)

Genes (Homo sapiens)
APTX  (aprataxin)


Additional Information