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February 29, 2008Journal of Medical Genetics

“SCA16” is really SCA15

R. J. M. Gardner

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Abstract

I was most interested to read the paper of Iwaki et al on “SCA16”, in a large ataxia kindred with a deletion of the ITPR1 gene.1 SCA15 has been a close interest of our group, going from the study of the original family that defined the condition, to the recent discovery of the ITPR1 …

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R. J. M. Gardner (2008) studied this question.

synapsesocial.com/papers/6a99a6b42a5b83337daba6e8 https://doi.org/10.1136/jmg.2007.056341

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Synapse has enriched 5 related papers. Consider them for comparative context:

1Heterozygous deletion of ITPR1, but not SUMF1, in spinocerebellar ataxia type 16Original Research · 2007 · 145 citations
2A new autosomal dominant pure cerebellar ataxiaOriginal Research · 2001 · 84 citations
3Deletion at ITPR1 Underlies Ataxia in Mice and Spinocerebellar Ataxia 15 in HumansOriginal Research · 2007 · 343 citations
4Refinement of the UKCGG/CanVIG framework for triage of putative germline variants identified via tumour and ctDNA sequencing: maximising clinical utility and harmonising gene and variant-restricted reporting across UK clinical practiceJournal of Medical Genetics · Wed,
5Deletion size and background genetic variation shape congenital heart disease phenotypes in 3016 individuals with 22q11.2 deletion syndromeJournal of Medical Genetics · Wed,

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