Spinocerebellar ataxias: microsatellite and allele frequency in unaffected and affected individuals

Freund, Aline Andrade; Scola, Rosana Hermínia; Teive, Hélio A.G.; Arndt, Raquel Cristina; Costa-Ribeiro, Magda Clara Vieira da; Alle, Lupe Furtado; Werneck, Lineü Cesar

doi:10.1590/s0004-282x2009000600034

Cited by 7 publications

(4 citation statements)

References 40 publications

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“…The relationship between the presence of large normal alleles and the relative frequency of the different SCA was explored in Mexican population and compared with other ethnicities (Table ). Interestingly, despite having a relatively high percentage of large normal alleles, no SCA1 case has been found in either Mexican or Brazilian populations ; contrariwise, a correlation between the rate of large normal alleles and SCA1 frequency is observed in Australians and Caucasians . Regarding SCA2, the occurrence of large normal alleles appears to correlate with the high frequency of this SCA in Mexico and Cuba .…”

Section: Resultsmentioning

confidence: 90%

Analysis ofCAGrepeats in fiveSCAloci in Mexican population: epidemiological evidence of aSCA7founder effect

et al. 2013

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Spinocerebellar ataxias (SCA) are a heterogeneous group of neurodegenerative disorders. CAG (cytosine-adenine-guanine) trinucleotide repeat expansions in the causative genes have been identified as the cause of different SCA. In this study, we simultaneously genotyped SCA1, SCA2, SCA3, SCA6, and SCA7 applying a fluorescent multiplex polymerase chain reaction assay. We analyzed 10 families with SCA (64 patients) from five different communities of Veracruz, a Mexican southeastern state, and identified 55 patients for SCA7 and 9 for SCA2, but none for SCA1, SCA3, or SCA6. To our knowledge, this sample represents one of the largest series of SCA7 cases reported worldwide. Genotyping of 300 healthy individuals from Mexican population and compiled data from different ethnicities showed discordant results concerning the hypothesis that SCA disease alleles arise by expansion of large normal alleles.

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Section: Resultsmentioning

confidence: 90%

Analysis ofCAGrepeats in fiveSCAloci in Mexican population: epidemiological evidence of aSCA7founder effect

et al. 2013

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“…Spinocerebellar ataxias (SCAs) are a group of autosomal dominant degenerative diseases of the central nervous system that currently includes around forty-three genetically distinct entities 1,2 . SCA3 has the greatest prevalence both worldwide and in Brazil [3][4][5][6] . It is caused by a trinucleotide repeat expansion on the long arm of chromosome 14 (14q24.3-q32) and leads to cerebellar ataxia (primarily gait ataxia), spasticity, peripheral neuropathy, amyotrophy and other movement disorders as well as bulging eyes (caused by lid retraction) [7][8][9] .…”

Section: Introductionmentioning

confidence: 99%

A Comparative Optical Coherence Tomography Study of Spinocerebellar Ataxia Types 3 and 10

et al. 2017

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SCA3 presents with a CAG expansion at 14q24.3-q32 while SCA10 shows an ATTCT expansion at 22q13-qter. SCA10 seems to be less aggressive than SCA3. For an in vivo, noninvasive approach of the correlation between central nervous system and clinical evolution, we can use optic coherence tomography (OCT) to measure retinal nerve fiber (RNFL) and ganglion cell layer (GCL) thickness. To describe OCT findings in SCA10, correlate it with expansion size and disease severity and compare with those of SCA3. We analyzed ten individuals with SCA3 and nine with SCA10 recruited from the neurology service of Hospital de Clínicas of Paraná-Brazil. They were submitted to OCT and clinical evaluation using SARA score. Expansion size, demographic data, time from disease onset, and age of onset were collected. We found no correlation between size of expansion, SARA, and RNFL or GCL thickness in SCA10. RNFL seemed to be thicker in SCA10 (p > 0.05). GCL thickness, SARA, median age, and time from disease onset did not differ between groups. SCA10 individuals had an earlier disease onset. In SCA3, there was a negative correlation between SARA and RNFL thickness in nasal area. To the best of our knowledge, this is the first paper assessing retinal changes by OCT in individuals with SCA10. The lack of correlation between disease progression, age, and time since onset supports the anatomopathological findings which suggest SCA10 is less aggressive than other SCAs. The findings in SCA3 are in accordance with the literature.

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“…A rare normal allele with 7 CAG repeat was observed. 4 Clinical manifestations of the patients with heterozygous MJD intermediate alleles in previous reports varied, including ataxia with autonomic dysfunction 5 or restless leg syndrome with sensory axonal neuropathy without overt cerebellar ataxia. 6 Thus, this study provides insight into the clinical implications of MJD intermediate alleles.…”

Section: Discussionmentioning

confidence: 92%

Compound heterozygous intermediate MJD alleles cause cerebellar ataxia with sensory neuropathy

et al. 2017

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Spinocerebellar ataxias: microsatellite and allele frequency in unaffected and affected individuals

Cited by 7 publications

References 40 publications

Analysis ofCAGrepeats in fiveSCAloci in Mexican population: epidemiological evidence of aSCA7founder effect

Analysis ofCAGrepeats in fiveSCAloci in Mexican population: epidemiological evidence of aSCA7founder effect

A Comparative Optical Coherence Tomography Study of Spinocerebellar Ataxia Types 3 and 10

Compound heterozygous intermediate MJD alleles cause cerebellar ataxia with sensory neuropathy

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