CAG repeat expansions in patients with sporadic cerebellar ataxia

Futamura, Naonobu; Matsumura, Ryusuke; Fujimoto, Y; Horikawa, Hirosei; Suzumura, Akio; Takayanagi, Tetsuya

doi:10.1111/j.1600-0404.1998.tb07378.x

Cited by 37 publications

(27 citation statements)

References 30 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Thus, further family analysis of these patients with sporadic disease is needed. Consistent with previous reports, 37,40,49 the frequency of sporadic SCA6 was higher than that of the other subgroups. This result suggests that the analysis of SCA6 may further contribute to the genetic classification of patients with autosomal dominant cerebellar ataxia, including patients without a clear family history of the disease.…”

Section: Commentsupporting

confidence: 94%

Frequency Analysis and Clinical Characterization of Spinocerebellar Ataxia Types 1, 2, 3, 6, and 7 in Korean Patients

Lee

Jin²,

Oh³

et al. 2003

Arch Neurol

View full text Add to dashboard Cite

This study provides a detailed analysis of the clinical characteristics of the genetically defined CAG-repeat SCAs in Korean patients. Although phenotypes were heterogeneous, some clinical features may be helpful for clinical diagnosis. However, genetic studies for SCA are needed despite uncertain family history or the presence of atypical clinical features causing misdiagnosis as atypical parkinsonism.

show abstract

Section: Commentsupporting

confidence: 94%

Frequency Analysis and Clinical Characterization of Spinocerebellar Ataxia Types 1, 2, 3, 6, and 7 in Korean Patients

Lee

Jin²,

Oh³

et al. 2003

Arch Neurol

View full text Add to dashboard Cite

show abstract

“…Within Germany, there is a cluster of SCA6 families in Westphalia (Riess et al 1997), which is most likely caused by a founder effect (Dichgans et al 1999). Similar to our study, the SCA6 mutation has been found in 13% of apparently idiopathic ataxia patients in Japan (Futamura et al 1998). In contrast, SCA6 has been demonstrated in only 1.5% of sporadic ataxia patients from the US (Moseley et al 1998).…”

Section: Discussionsupporting

confidence: 80%

Genetic background of apparently idiopathic sporadic cerebellar ataxia

et al. 2000

View full text Add to dashboard Cite

Disease-causing mutations have been identified in various entities of autosomal dominant ataxia and in Friedreich's ataxia. However, no molecular pathogenic factor is known to cause idiopathic cerebellar ataxias. We investigated the CAG/CTG trinucleotide repeats causing spinocerebellar ataxia types 1, 2, 3, 6, 7, 8 and 12, and the GAA repeat of the frataxin gene in 124 patients apparently suffering from idiopathic sporadic ataxia, including 20 patients with the clinical diagnosis of multiple system atrophy. Patients with a positive family history, a typical Friedreich phenotype, or symptomatic ataxia were excluded. Genetic analyses uncovered the most common Friedreich mutation in 10 patients with an age at onset between 13 and 36 years. The SCA6 mutation was present in nine patients with disease onset between 47 and 68 years of age. The CTG repeat associated with SCA8 was expanded in three patients. One patient had SCA2 attributable to a de novo mutation from a paternally transmitted, intermediate allele. We did not identify the SCA1, SCA3, SCA7 or SCA12 mutation in idiopathic sporadic ataxia patients. No trinucleotide repeat expansion was detected in the MSA subgroup. This study has revealed the genetic basis in 19% of apparently idiopathic ataxia patients. SCA6 is the most frequent mutation in late onset cerebellar ataxia. The frataxin trinucleotide expansion should be investigated in all sporadic ataxia patients with onset before age 40, even when the phenotype is atypical for Friedreich's ataxia.

show abstract

“…Detection of SCA6 patients beyond H-CCA would be important for future treatment. A majority of authors recommend genetic testing for CAG repeats within CACNL1A4 even in patients with sporadic ataxia [26, 31, 32, 33]. For the efficient screening of SCA6, we would propose testing of CAG repeat expansion in CACNL1A4 in patients having one of the following symptoms: (1) horizontal or oblique gaze nystagmus on physical examination, (2) pure cerebellar atrophy on MRI, even if occurrence is sporadic.…”

Section: Discussionmentioning

confidence: 99%

Pontine Atrophy in Spinocerebellar Ataxia Type 6

Sugawara

Toyoshima²,

Wada³

et al. 2000

Eur Neurol

View full text Add to dashboard Cite

To investigate the clinical range of spinocerebellar ataxia type 6 (SCA6), we screened CAG repeat expansion in the voltage-dependent alpha 1A calcium channel gene (CACNL1A4) in 71 ataxic patients in 60 families; 54 patients in 43 families with hereditary ataxia and 17 sporadic patients. Thirteen patients with SCA6 were detected to have elongated CAG in CACNL1A4. Of these, 7 patients had been diagnosed as having hereditary cerebellar cortical atrophy, and 6 patients had been found to have sporadic occurrence. One patient showed distinct pontine atrophy with prominent horizontal or oblique gaze nystagmus which is an unusual feature in sporadic olivopontocerebellar atrophy. For the efficient screening of SCA6, we would propose testing CAG repeat expansion in CACNL1A4, in patients with one of two markers: (1) horizontal or oblique gaze nystagmus without other eye movement disorders, (2) pure cerebellar atrophy, even if occurrence is sporadic. We should note that the pontine atrophy could also be caused by CAG repeat expansion in CACNL1A4.

show abstract

CAG repeat expansions in patients with sporadic cerebellar ataxia

Cited by 37 publications

References 30 publications

Frequency Analysis and Clinical Characterization of Spinocerebellar Ataxia Types 1, 2, 3, 6, and 7 in Korean Patients

Frequency Analysis and Clinical Characterization of Spinocerebellar Ataxia Types 1, 2, 3, 6, and 7 in Korean Patients

Genetic background of apparently idiopathic sporadic cerebellar ataxia

Pontine Atrophy in Spinocerebellar Ataxia Type 6

Contact Info

Product

Resources

About