Autosomal dominant cone dystrophy-cerebellar atrophy (ADCoCA) (modified ADCA Harding II)

Neetens, A; Martin, Jean‐Jacques; Libert, Jacques; Ende, Van P.V. Den

doi:10.3109/01658109008997294

Cited by 32 publications

(23 citation statements)

References 17 publications

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“…The mean duration in subjects carrying less than 49 repeats is 15 years and differs significantly from the 11 year duration when the number of repeats is 49 or more (Giunti et al, 1999). Longer disease durations, up to 30 years or more, are observed only in late onset patients (Neetens et al, 1990). Anticipation is also associated with increasing severity of symptoms in successive generations.…”

Section: Age At Onset Anticipation and Disease Durationmentioning

confidence: 87%

“…The phenotype of a given SCA7 patient partly depends on both the size of the mutation and disease duration at the time of examination. In some infantile cases with very large repeat expansions, progression is extremely rapid and the heart can be affected (Benton et al, 1998;Neetens et al, 1990). It is surprising that the retina may also be affected in juvenile SCA2 patients (Babovic-Vuksanovic et al, 1998).…”

Section: Age At Onset Anticipation and Disease Durationmentioning

confidence: 99%

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Spinocerebellar ataxia 7 (SCA7)

Lèbre

Brice

2003

Cytogenet Genome Res

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Spinocerebellar ataxia 7 (SCA7) is a progressive autosomal dominant neurodegenerative disorder characterized clinically by cerebellar ataxia associated with progressive macular dystrophy. The disease affects primarily the cerebellum and the retina, but also many other CNS structures as the disease progresses. SCA7 is caused by expansion of an unstable trinucleotide CAG repeat encoding a polyglutamine tract in the corresponding protein, ataxin-7. Normal SCA7 alleles contain 4–35 CAG repeats, whereas pathological alleles contain from 36–306 CAG repeats. SCA7 has a number of features in common with other diseases with polyglutamine expansions: (i) the appearance of clinical symptoms above a threshold number of CAG repeats (>35); (ii) a correlation between the size of the expansion and the rate of progression of the disease: the larger the repeat, the faster the progression; (iii) instability of the repeat sequence (∼12 CAG/transmission) that accounts for the marked anticipation of ∼20 years/generation. The CAG repeat sequence is particularly unstable and de novo mutations can occur during paternal transmissions of intermediate size alleles (28–35 CAG repeats). This can explain the persistence of the disease in spite of the anticipation that should have resulted in its extinction.

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Section: Age At Onset Anticipation and Disease Durationmentioning

confidence: 87%

Section: Age At Onset Anticipation and Disease Durationmentioning

confidence: 99%

Spinocerebellar ataxia 7 (SCA7)

Lèbre

Brice

2003

Cytogenet Genome Res

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“…If full ®eld ERGs were performed, the results could be normal or abnormal. If rod and cone selective stimuli were used in the ERG studies, abnormalities tended to be more prominent in cone-mediated responses or in both cone and rod signals (Bjo Èrk 1956;Jampel 1961;de Jong et al, 1980;Hamilton et al, 1990;Neetens et al, 1990;. It can be assumed that many of these families had SCA7.…”

Section: Discussionmentioning

confidence: 99%

Spinocerebellar Ataxia Type 7 (SCA7) Shows a Cone–Rod Dystrophy Phenotype

Alemán

Cideciyan

Volpe

et al. 2002

Experimental Eye Research

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“…The rarely documented infantile SCA7 phenotype, characterised by additional extraneurological manifestations and a rapidly progressive course, is associated with enormous repeat expansions on paternal disease transmission [2,[11][12][13].…”

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confidence: 99%