Partial deletion of AFG3L2 causing spinocerebellar ataxia type 28.
Gent, Belgium. In Neurology, 2014
OBJECTIVE: To identify the genetic cause of autosomal dominant spinocerebellar ataxia type 28 (SCA28) with ptosis in 2 Belgian families without AFG3L2 point mutations and further extend the clinical spectrum of SCA28 through the study of a brain autopsy, advanced MRI, and cell-based functional assays exploring the underlying disease mechanism.
[The genetics of spinocerebellar ataxias].
Bonn, Germany. In Nervenarzt, 2013
In Germany particularly SCA1, SCA2, SCA3 and SCA6 are prevalent, as well as the less frequent subtypes SCA5, SCA14, SCA15, SCA17 and SCA28.
Spinocerebellar ataxia type 28.
Milano, Italy. In Handb Clin Neurol, 2011
The mutations of SCA28 are associated with amino acid changes in evolutionarily conserved residues of the alleged SCA28 gene, and indicate SCA28 as the sixth recognized SCA genotype caused by point mutations.
Spinocerebellar Ataxia Type 28
Seattle, United States. In Unknown Journal, 2011
DIAGNOSIS/TESTING: No features of SCA28 are pathognomonic; therefore, diagnosis depends on molecular genetic testing of AFG3L2, the only gene in which mutation is known to cause SCA28.
Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristics.
Johnson City, United States. In Orphanet J Rare Dis, 2010
To date, 21 subtypes have been identified: SCA1-SCA4, SCA8, SCA10, SCA12-SCA14, SCA15/16, SCA17-SCA23, SCA25, SCA27, SCA28 and dentatorubral pallidoluysian atrophy (DRPLA).
Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond.
Paris, France. In Lancet Neurol, 2010
All other SCAs are caused by either conventional mutations or large rearrangements in genes with different functions, including glutamate signalling (SCA5/SPTBN2) and calcium signalling (SCA15/16/ITPR1), channel function (SCA13/KCNC3, SCA14/PRKCG, SCA27/FGF14), tau regulation (SCA11/TTBK2), and mitochondrial activity (SCA28/AFG3L2) or RNA alteration (SCA31/BEAN-TK2).