Association of spinocerebellar ataxia type 3 and spinocerebellar ataxia type 8 microsatellite expansions: Genetic counseling implications

Paganoni, Sabrina; Seelaus, Christina; Ormond, Kelly E.; Opal, Puneet

doi:10.1002/mds.21797

Cited by 11 publications

(9 citation statements)

References 8 publications

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“…In another study, involving 58 Polish families with SCA1, five (8.6%) had expanded repeats of SCA8 alleles (11). A 31-year-old man with a combination of mutations in SCA3 and SCA8 has been reported (12). In this patient, his asymptomatic mother tested positive only for SCA8, whereas his father with ataxia was not tested (12).…”

Section: Discussionmentioning

confidence: 99%

“…A 31-year-old man with a combination of mutations in SCA3 and SCA8 has been reported (12). In this patient, his asymptomatic mother tested positive only for SCA8, whereas his father with ataxia was not tested (12). The relative over-representation of SCA8 in these “hybrid” individuals may be due to poorly defined phenotype and genotype in SCA8 (13).…”

Section: Discussionmentioning

confidence: 99%

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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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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Bolivian kindred with combined spinocerebellar ataxia types 2 and 10

et al. 2015

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“…[28][29][30][31] Families in which affected individuals have another SCA, in addition to an SCA8 expansion, are known. 30,32 Ceasing to test other loci, if a SCA8 expansion is found, could lead to missing the causative mutation. There is a thought that PST or PND should not be offered for SCA8; however, some consider that genetic linkage testing could be offered, if the expansion segregates with the disease and penetrance can be confirmed in the family.…”

Section: Methodologiesmentioning

confidence: 99%

Consensus and controversies in best practices for molecular genetic testing of spinocerebellar ataxias

Sequeiros

Seneca²,

Martindale

2010

Eur J Hum Genet

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Many laboratories worldwide are offering molecular genetic testing for spinocerebellar ataxias (SCAs). This is essential for differential diagnosis and adequate genetic counselling. The European Molecular Genetics Quality Network (EMQN) started an SCA external quality assessment scheme in 2004. There was a clear need for updated laboratory guidelines. EMQN and EuroGentest organized a Best Practice (BP) meeting to discuss current practices and achieve consensus. A pre-meeting survey showed that 36 laboratories (20 countries) conducted nearly 18 000 SCA tests the year before, and identified issues to discuss. Draft guidelines were produced immediately after the meeting and discussed online for several months. The final version was endorsed by EMQN, and harmonized with guidelines from other oligonucleotide repeat disorders. We present the procedures taken to organize the survey, BP meeting, as well as drafting and approval of BP guidelines. We emphasize the most important recommendations on (1) pre-test requirements, (2) appropriate methodologies and (3) interpretation and reporting, and focus on the discussion of controversial issues not included in the final document. In addition, after an extensive review of scientific literature, and responding to recommendations made, we now produce information that we hope will facilitate the activities of diagnostic laboratories and foster quality SCA testing. For the main loci, this includes (1) a list of repeat sequences, as originally published; (2) primers in use; and (3) an evidence-based description of the normal and pathogenic repeat-size ranges, including those of reduced penetrance and those in which there is still some uncertainty. This information will be maintained and updated in http://www.scabase.eu.

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“…While the presence of more than 1 SCA type in a patient is rare overall, patients carrying mutations in SCA8 and either SCA6 or SCA1 have been previously reported. 4,5 SCA8 has been postulated to modify the effect of polyglutamine transcripts in SCA6 pa-tients. Whether this effect could also occur in SCA2 and SCA10 remains unknown.…”

Section: In Replymentioning

confidence: 99%