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

Alemán, Tomás S.; Cideciyan, Artur V.; Volpe, Nicholas J.; Stevanin, Giovanni; Brice, Alexis; Jacobson, Samuel G.

doi:10.1006/exer.2002.1169

Cited by 98 publications

(54 citation statements)

References 44 publications

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“…Visual failure is progressive, bilateral and symmetrical, and leads irreversibly to blindness (Enevoldson et al, 1994;Gouw et al, 1994). Aleman and colleagues performed a detailed study of the retinal phenotype of affected members of a family with the SCA7 mutation (45-47 CAG repeats) (Aleman et al, 2002). There was a spectrum of severity from mild to severe dysfunction.…”

Section: Phenotypementioning

confidence: 99%

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: Phenotypementioning

confidence: 99%

Spinocerebellar ataxia 7 (SCA7)

Lèbre

Brice

2003

Cytogenet Genome Res

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“…[12] Clinically, SCA7 is characterised by cerebellar ataxia, dysarthria, dysphagia and exaggerated deep tendon reflexes. [13] It is distinct from other polyQ diseases by virtue of the presence of progressive macular degeneration, which results in severe visual impairment, in addition to the gait and speech difficulties characteristic of cerebellar degeneration. [14] The neuropathology of SCA7 shows a strong correlation with disease phenotype.…”

Section: The New Millenniummentioning

confidence: 99%

Spinocerebellar ataxia type 7 in South Africa: Epidemiology, pathogenesis and therapy

et al. 2016

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“…Cerebellar degeneration found in these patients leads to ataxia where a reduction of the ability to coordinate muscle movement is affected. Retinal degeneration characterized by cone-rod dystrophy retinal degeneration with a subsequent progressive blindness is a unique feature on SCA7 (Aleman et al, 2002). Other related clinical symptoms include muscle weakness, amyotrophy, dysarthria, dysphagia, hearing loss and intellectual impairment.…”

Section: Spinocerebellar Ataxia Type 7 (Sca7) Diseasementioning

confidence: 99%