Autosomal dominant cerebellar ataxia with retinal degeneration (ADCA II): clinical and neuropathological findings in two pedigrees and genetic linkage to 3p12-p21.1.

Jöbsis, G. Joost; Weber, Julia; Barth, P. G.; Keizers, H; Baas, Frank; Schooneveld, Mary J. van; Hilten, Jacobus J. van; Troost, Dirk; Geesink, Huibert H.; Bolhuis, P. A.

doi:10.1136/jnnp.62.4.367

Cited by 35 publications

(22 citation statements)

References 19 publications

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“…Retinal degeneration constitutes an important component in juvenile and early adult onset (<25 yr), but is variable in late onset patients (>40 yr) (18). In late onset patients visual failure due to retinal degeneration is a late symptom, and in some patients, it is not found for periods varying between 17 and 27 yr after the onset of ataxia (18).…”

Section: Introductionmentioning

confidence: 99%

Spinocerebellar Ataxia Type 7 without Retinal Degeneration: A Case Rreport

Kim

Cho

et al. 2002

J Korean Med Sci

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A 60-yr-old man developed progressive gait disturbance and limb ataxia at the age of 52. Family history was absent for neurological disorders. Examinations showed pure cerebellar syndrome. There was no retinal degeneration for 7 yr. A brain MRI done at the age of 56 showed atrophy of the cerebellar hemispheres and vermis. Genetic test confirmed the spinocerebellar ataxia type 7 with CAG repeat number of 42.

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Section: Introductionmentioning

confidence: 99%

Spinocerebellar Ataxia Type 7 without Retinal Degeneration: A Case Rreport

Kim

Cho

et al. 2002

J Korean Med Sci

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“…The clinical manifestations typically begin in the third or fourth decade, with mean age at onset close to 30, but a range of three months or less to over 70 years (Martin et al, 1994;Holmberg et al, 1995;Jöbsis et al, 1997;Benton et al, 1998;David et al, 1998a;Gouw et al, 1998;Giunti et al, 1999). Analysis of parent-child couples has revealed striking anticipation (F20 years/generation).…”

Section: Age At Onset Anticipation and Disease Durationmentioning

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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“…The SCA7 CAG repeat is polymorphic and mostly contains [4][5][6][7][8][9][10][11][12][13][14][15][16][17][18] and two SCA7 patients (e, f). Note the normal appearance of the macula (black arrow) and the optic disk (arrowhead), and the well-developed vasculature (white arrow) in the control individual (d).…”

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confidence: 99%

Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy

2003

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Spinocerebellar ataxia type 7 (SCA7) is an autosomal-dominant, late-onset, slowly progressive disorder, primarily characterized by gradual loss of motor coordination, resulting from dysfunction and degeneration of the cerebellum and its connecting pathways. The disease is caused by expansion of a CAG trinucleotide repeat within the SCA7 gene, which encodes a polyglutamine tract within a novel protein, termed ataxin-7. The expansion of polyglutamine-encoding CAG repeats in dissimilar genes underlies eight neurodegenerative conditions besides SCA7, including a number of dominant ataxias related to SCA7. Although elongated polyglutamine itself can initiate neuronal dysfunction and death, its toxicity is modulated by the context of the disease proteins, as evidenced by the differing clinical and pathological presentation of the various disorders. In this respect, it is exciting that SCA7 constitutes the only polyglutamine disorder, in which the photoreceptors of the retina are also severely affected, leading to retinal degeneration and blindness. Since the discovery of the SCA7 mutation, numerous studies attempted to pinpoint the molecular mechanisms underlying the unique features of SCA7, particularly the retinal involvement. Here we summarize the clinical, pathological, and genetic aspects of SCA7, and review the current understanding of the pathogenesis of this disorder.

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Autosomal dominant cerebellar ataxia with retinal degeneration (ADCA II): clinical and neuropathological findings in two pedigrees and genetic linkage to 3p12-p21.1.

Cited by 35 publications

References 19 publications

Spinocerebellar Ataxia Type 7 without Retinal Degeneration: A Case Rreport

Spinocerebellar Ataxia Type 7 without Retinal Degeneration: A Case Rreport

Spinocerebellar ataxia 7 (SCA7)

Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy

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