Spinocerebellar ataxia type 12 is rare in the United Kingdom

Worth, PF; Wood, Nicholas W.

doi:10.1212/wnl.56.3.419

Cited by 16 publications

(13 citation statements)

References 1 publication

(4 reference statements)

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“…In our study, normal repeats ranged from seven to 25 repeats, with the most frequent allele containing 10 repeats (20%). Although we have not detected any expanded alleles in our database, these results together with findings in other populations indicated that the SCA12 mutation may be a rare cause of cerebellar ataxia worldwide (32)(33)(34). However, no SCA12 allele with more than 25 CAG repeats was found among the 108 normal chromosomes.…”

Section: Discussioncontrasting

confidence: 64%

Analysis of trinucleotide repeats in different SCA loci in spinocerebellar ataxia patients and in normal population of Taiwan

et al. 2004

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Section: Discussioncontrasting

confidence: 64%

Analysis of trinucleotide repeats in different SCA loci in spinocerebellar ataxia patients and in normal population of Taiwan

et al. 2004

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“…1. The number of repeats in both controls and patients was 8 to 21 and 9 to 22 respectively, and appeared to be in the range previously defined as normal (7-30 repeats) [4,27]. The distribution is bimodal with a first peak corresponding to the most common 10 CAG allele and a second peak between 13 and 15 triplets.…”

Section: Resultsmentioning

confidence: 53%

Analysis of SCA8 and SCA12 loci in 134 Italian ataxic patients negative for SCA1-3, 6 and 7 CAG expansions

Brusco¹,

Cagnoli²,

Franco

et al. 2002

Journal of Neurology

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Spinocerebellar ataxias (SCA) are a heterogeneous group of neurodegenerative disorders, six of which are caused by expansion of a polyglutamine-coding CAG repeats ( SCA1- 3, 6, 7 and 17). In addition, expansions of a CAG triplet in the 5' region of a gene and a CTG triplet in an antisense RNA have been demonstrated in the SCA12 and SCA8 genes respectively. Our series of 134 ataxic patients (22 familial and 112 sporadic, tested negative for SCAI-3, 6, 7) was investigated for the presence of triplet expansions in the SCA8 and SCA12 genes. No SCA12 expansion was identified. A moderate SCA8 expansion (85-97 repeats) was found in two unrelated families with slowly progressive cerebellar ataxia. The frequency of SCA8 expansion accounts for approximately 4.3 % of the whole pool of our ataxia families (2 out of 46), while none of the 127 controls screened carried > 35 CTG+CTA repeats. Our data suggest a possible pathogenetic role of this mutation, which at present is still controversial, and confirm the rarity of the SCA12 expansion in Italian patients.

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“…SCA12 is a rare spinocerebellar ataxia described in a North‐American family of German descent, and in three other patients, one from Singapore and two from China 5, 9, 15–22. The prevalence of SCA12 seems to be high in a single ethnic group from northern India due to a founder effect, where it represents the second most common form of SCA after SCA2 6, 7, 11…”

Section: Discussionmentioning

confidence: 99%

Spinocerebellar ataxia type 12 identified in two Italian families may mimic sporadic ataxia

Brussino¹,

Graziano

Giobbe

et al. 2010

Movement Disorders

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SCA12 is an autosomal dominant cerebellar ataxia characterized by onset in the fourth decade of life with action tremor of arms and head, mild ataxia, dysmetria, and hyperreflexia. The disease is caused by an expansion of >or=51 CAGs in the 5' region of the brain- specific phosphatase 2 regulatory subunit B-beta isoform (PPP2R2B) gene. SCA12 is very rare, except for a single ethnic group in India. We screened 159 Italian ataxic patients for SCA12 and identified two families that segregated an expanded allele of 57 to 58 CAGs, sharing a common haplotype. The age at onset, phenotype, and variability of symptoms were compatible with known cases. In one family, the disease was apparently sporadic due to possible incomplete penetrance and/or late age at onset. Our data indicate that SCA12 is also present in Italian patients, and its genetic testing should be applied to both sporadic and familial ataxias.

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Spinocerebellar ataxia type 12 is rare in the United Kingdom

Cited by 16 publications

References 1 publication

Analysis of trinucleotide repeats in different SCA loci in spinocerebellar ataxia patients and in normal population of Taiwan

Analysis of trinucleotide repeats in different SCA loci in spinocerebellar ataxia patients and in normal population of Taiwan

Analysis of SCA8 and SCA12 loci in 134 Italian ataxic patients negative for SCA1-3, 6 and 7 CAG expansions

Spinocerebellar ataxia type 12 identified in two Italian families may mimic sporadic ataxia

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