Article

Ataxia with oculomotor apraxia type 1 in Southern Italy: late onset and variable phenotype.

Department of Neurological Sciences, Federico II University, Naples, Italy.
Neurology (impact factor: 8.31). 01/2005; 63(11):2173-5. pp.2173-5
Source: PubMed

ABSTRACT Ataxia with oculomotor apraxia type 1 (AOA1) is an autosomal recessive disorder characterized by early-onset cerebellar ataxia, oculomotor apraxia, and peripheral neuropathy. The causative gene (APTX) has been recently identified in Portuguese and Japanese kindreds. Three patients with AOA1 were identified in an APTX mutation screening on 28 Southern Italian patients with progressive ataxia and peripheral neuropathy. A novel homozygous missense mutation (H201Q) was found in one patient and a Japanese missense mutation (P206L) in two. AOA1 clinical heterogeneity and onset later than previously described are shown.

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    Article: A novel mutation of aprataxin associated with ataxia ocular apraxia type 1: phenotypical and genotypical characterization.
    Moreno Ferrarini, Giovanna Squintani, Tiziana Cavallaro, Sergio Ferrari, Nicolo' Rizzuto, Gian Maria Fabrizi
    [show abstract] [hide abstract]
    ABSTRACT: Ataxia oculomotor apraxia type 1 (AOA1) is the most common form of autosomal recessive ataxia in Japan, and the second in Portugal after Friedreich ataxia. AOA1 is typically characterized by early-onset cerebellar ataxia, oculomotor apraxia, hypoalbuminemia, hypercholesterolemia and late axonal sensori-motor neuropathy. AOA1 is associated with the aprataxin gene (APTX) encoding a protein involved in DNA repair. We characterized a novel homozygous missense mutation of APTX in a 34 year-old female patient born from consanguineous parents. The mutation, a Val230Gly caused by a c.689 T>G substitution, involved the histidine-triad (HIT) domain of the protein, affected a phylogenetically conserved amino acid and was absent in the control population. We described the clinical and neurophysiological features, the findings at structural and functional brain imaging, and the pathological picture of the sural nerve biopsy. The report emphasized the genetical and phenotypical heterogeneity of AOA1 by demonstrating atypical features such as absence of oculomotor apraxia and signs of pyramidal involvement. Expression studies by Western blotting on fibroblasts demonstrated that the homozygous Val230Gly mutation was associated with decreased levels of APTX indicating a loss-of-function mechanism.
    Journal of the Neurological Sciences 10/2007; 260(1-2):219-24. · 2.35 Impact Factor
Data provided are for informational purposes only. Although carefully collected, accuracy cannot be guaranteed. The impact factor represents a rough estimation of the journal's impact factor and does not reflect the actual current impact factor. Publisher conditions are provided by RoMEO. Differing provisions from the publisher's actual policy or licence agreement may be applicable.

Keywords

28 Southern Italian patients
 
AOA1
 
AOA1 clinical heterogeneity
 
APTX
 
APTX mutation screening
 
autosomal recessive disorder
 
causative gene
 
Japanese kindreds
 
Japanese missense mutation
 
novel homozygous missense mutation
 
oculomotor apraxia
 
oculomotor apraxia type 1
 
peripheral neuropathy