Two in One

Kapur, Sachin S.; Goldman, Jennifer G.

doi:10.1001/archneurol.2011.3044

Cited by 11 publications

(4 citation statements)

References 25 publications

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“…Two of which showed coexistence of expanded alleles in SCA1 and SCA2 the other one was diagnosed with co-occurrence of SCA2 and SCA12 expansion mutation. Literature explorations corroborated co-occurrence of SCA2 with SCA12; [62] SCA2 with SCA10; [63] SCA3 with SCA2 and SCA17; [64] SCA8 with SCA1, SCA2 and SCA6. [65] To the best of our knowledge, the coexistence of expansion in SCA1 and SCA2 has not been reported.…”

Section: Discussionmentioning

confidence: 88%

Genetics of Ataxias in Indian Population: A Collative Insight from a Common Genetic Screening Tool

Sharma

Sonakar²,

Tyagi

et al. 2022

Advanced Genetics

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Cerebellar ataxias (CAs) represent a group of autosomal dominant and recessive neurodegenerative disorders affecting cerebellum with or without spinal cord. Overall, CAs have preponderance for tandem nucleotide repeat expansions as an etiological factor (10 TREs explain nearly 30–40% of ataxia cohort globally). The experience of 10 years of common genetic ataxia subtypes for ≈5600 patients’ referrals (Pan‐India) received at a single center is shared herein. Frequencies (in %, n) of SCA types and FRDA in the sample cohort are observed as follows: SCA12 (8.6%, 490); SCA2 (8.5%, 482); SCA1 (4.8%, 272); SCA3 (2%, 113); SCA7 (0.5%, 28); SCA6 (0.1%, 05); SCA17 (0.1%, 05), and FRDA (2.2%, 127). A significant amount of variability in TRE lengths at each locus is observed, we noted presence of biallelic expansion, co‐occurrence of SCA‐subtypes, and the presence of premutable normal alleles. The frequency of mutated GAA‐FRDA allele in healthy controls is 1/158 (0.63%), thus an expected FRDA prevalence of 1:100 000 persons. The data of this study are relevant not only for clinical decision making but also for guidance in direction of genetic investigations, transancestral comparison of genotypes, and lastly provide insight for policy decision for the consideration of SCAs under rare disease category.

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Section: Discussionmentioning

confidence: 88%

Genetics of Ataxias in Indian Population: A Collative Insight from a Common Genetic Screening Tool

Sharma

Sonakar²,

Tyagi

et al. 2022

Advanced Genetics

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“…The first case described was a 54-year old man with Mexican, French and Native American ancestry, he had 38/22 CAG and 962/10 ATTCT repeats in the SCA2 and SCA10 genes, respectively (6). We also described a 38-year old Bolivian man of German ancestry and a combination of SCA2 (44/22 CAG repeats) and SCA10 (1611/13 ATTCT repeats) gene expansions (7).…”

Section: Introductionmentioning

confidence: 99%

Bolivian kindred with combined spinocerebellar ataxia types 2 and 10

et al. 2015

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Spinocerebellar ataxias (SCA) are a group of rare hereditary neurodegenerative disorders. Rare cases of two SCA mutations in the same individual have been reported in the literature, however, family descriptions are lacking. Here we present the clinical features and genetic findings of a Bolivian family expressing both SCA2 and SCA10 mutations. The index case and his mother had both SCA2 and SCA10 mutations with a combined clinical phenotype of both disorders, including slow saccades (SCA2) and seizures (SCA10). The uncle of the index case had only a SCA10 mutation. Although the presence of two SCA mutations in the same individuals may be coincidental, the low probability of having both mutations suggests that these mutations might be particularly prevalent in Bolivian population. This is the first description of a family with two SCA mutations with affected subjects having a combined SCA2 and SCA10 phenotype.

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“…Although detailed neuropsychological examinations had not been conducted, the age of onset and the remarkable frontal lobe atrophy indicate the possibility of comorbidity, such as frontotemporal lobar degeneration (FTLD). While two mutations in one patient are rare, such cases have been reported [40, 41]. Thus, we investigated genes associated with FTLD.…”

Section: Discussionmentioning

confidence: 99%

First report of a Japanese family with spinocerebellar ataxia type 10: The second report from Asia after a report from China

et al. 2017

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Spinocerebellar ataxia type 10 (SCA10) is an autosomal-dominant cerebellar ataxia that is variably accompanied by epilepsy and other neurological disorders. It is caused by an expansion of the ATTCT pentanucleotide repeat in intron 9 of the ATXN10 gene. Until now, SCA10 was almost exclusively found in the American continents, while no cases had been identified in Japan. Here, we report the first case of an SCA10 family from Japan. The clinical manifestations in our cases were cerebellar ataxia accompanied by epilepsy, hyperreflexia and cognitive impairment. Although the primary pathology in SCA10 in humans is reportedly the loss of Purkinje cells, brain MRI revealed frontal lobe atrophy with white matter lesions. This pathology might be associated with cognitive dysfunction, indicating that the pathological process is not limited to the cerebellum. Examination of the SNPs surrounding the SCA10 locus in the proband showed the “C-expansion-G-G-C” haplotype, which is consistent with previously reported SCA10-positive individuals. This result was consistent with the findings that the SCA10 mutation may have occurred before the migration of Amerindians from East Asia to North America and the subsequent spread of their descendants throughout North and South America.

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Two in One

Cited by 11 publications

References 25 publications

Genetics of Ataxias in Indian Population: A Collative Insight from a Common Genetic Screening Tool

Genetics of Ataxias in Indian Population: A Collative Insight from a Common Genetic Screening Tool

Bolivian kindred with combined spinocerebellar ataxia types 2 and 10

First report of a Japanese family with spinocerebellar ataxia type 10: The second report from Asia after a report from China

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