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Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion
Friedreich's ataxia (FRDA) is an autosomal recessive, degenerative disease that involves the central and peripheral nervous systems and the heart. A gene, X25, was identified in the critical regionExpand
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Association between early-onset Parkinson's disease and mutations in the parkin gene.
BACKGROUND Mutations in the parkin gene have recently been identified in patients with early-onset Parkinson's disease, but the frequency of the mutations and the associated phenotype have not beenExpand
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A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic
Autosomal recessive juvenile parkinsonism (AR-JP, PARK2; OMIM 602544), one of the monogenic forms of Parkinson's disease (PD), was initially described in Japan. It is characterized by early onsetExpand
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Friedreich's ataxia: Point mutations and clinical presentation of compound heterozygotes
Friedreich's ataxia is the most common inherited ataxia. Ninety‐six percent of patients are homozygous for GAA trinucleotide repeat expansions in the first intron of the frataxin gene. The remainingExpand
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The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia.
Friedreich ataxia (FA) is associated with the expansion of a GAA trinucleotide repeat in the first intron of the X25 gene. We found both alleles expanded in 67 FA patients from 48 Italian families.Expand
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The Friedreich ataxia GAA triplet repeat: premutation and normal alleles.
The most common mutation causing Friedreich ataxia (FRDA), an autosomal recessive neurodegenerative disease, is the hyperexpansion of a polymorphic GAA triplet repeat localized within an Alu sequenceExpand
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How much phenotypic variation can be attributed to parkin genotype?
To establish phenotype–genotype correlations in early‐onset parkinsonism, we have compared the phenotype of a large series of 146 patients with and 250 patients without parkin mutations. Although noExpand
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Ataxia with oculomotor apraxia type 2
Background: Ataxia with oculomotor apraxia type 2 (AOA2) is characterized by onset between age 10 and 22 years, cerebellar atrophy, peripheral neuropathy, oculomotor apraxia (OMA), and elevated serumExpand
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Diffusion‐weighted imaging in multiple system atrophy: A comparison between clinical subtypes
Multiple system atrophy can be classified into two main types, a Parkinsonian (MSA‐P) and a cerebellar (MSA‐C) variant based on clinical presentation. We obtained diffusion‐weighted magneticExpand
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Intergenerational instability and marked anticipation in SCA-17
The authors describe an Italian family with autosomal dominant ataxia, dementia, psychiatric and extrapyramidal features, epilepsy, mild sensorimotor axonal neuropathy, and MRI findings of cerebralExpand
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