2000
DOI: 10.1002/1531-8249(200009)48:3<354::aid-ana10>3.0.co;2-a
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Clinical and genetic findings in Finnish ataxia patients with the spinocerebellar ataxia 8 repeat expansion

Abstract: Spinocerebellar ataxia 8 (SCA8) is caused by a CTG repeat expansion in an untranslated region of a recently cloned gene on 13q21. The pathogenic role of this trinucleotide repeat was evaluated by examining 154 Finnish ataxia patients and 448 controls. Expansions ranging from 100 to 675 repeats were present in 9 (6%) unrelated patients and in 13 (3%) controls. There was a threefold excess of shorter expansions (<204 repeats) in the ataxia series, and the expansions tended to cluster in patients with a family hi… Show more

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Cited by 71 publications
(73 citation statements)
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“…The clinical features of our SCA8 families are similar to those reported by others: slowly progressive cerebellar ataxia with prominent dysarthria variably associated with pyramidal signs and mild sensory impairment [1,7]. These features are well represented in family A, where dysarthria, gait and limb ataxia, more evident in the lower rather than in the upper limbs, and signs of oculomotor and swallowing incoordination, and pyramidal signs are major clinical features expressed through a long duration of disease (average 49 years).…”
Section: Discussionsupporting
confidence: 84%
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“…The clinical features of our SCA8 families are similar to those reported by others: slowly progressive cerebellar ataxia with prominent dysarthria variably associated with pyramidal signs and mild sensory impairment [1,7]. These features are well represented in family A, where dysarthria, gait and limb ataxia, more evident in the lower rather than in the upper limbs, and signs of oculomotor and swallowing incoordination, and pyramidal signs are major clinical features expressed through a long duration of disease (average 49 years).…”
Section: Discussionsupporting
confidence: 84%
“…No correlation between repeat size and age of onset has been observed among our patients, although within each family the longest expansion is associated with an earlier age of onset and a more severe phenotype. This finding could also suggest that pathogenic ranges vary among families as proposed by Day et al and Juvonen et al [1,7].…”
Section: Discussionsupporting
confidence: 59%
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“…SCA8 cases can be familial or sporadic. The clinical Wndings include cerebellar ataxia with upper motor neuron dysfunction, dysphagia, peripheral sensory disturbances, or cognitive impairments (Day et al 2000;Ikeda et al 2000;Juvonen et al 2000). The reported repeat lengths associated with ataxia range from 68 (Stevanin et al 2000) to >1,000 repeats (Ikeda et al 2004), mostly 85-130.…”
Section: Introductionmentioning
confidence: 99%