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Myotonic Dystrophy Type 2 Caused by a CCTG Expansion in Intron 1 of ZNF9
TLDR
DM2 is caused by a CCTG expansion located in intron 1 of the zinc finger protein 9 (ZNF9) gene, indicating that microsatellite expansions in RNA can be pathogenic and cause the multisystemic features of DM1 and DM2.
Non-ATG–initiated translation directed by microsatellite expansions
TLDR
It is shown that RAN translation across human spinocerebellar ataxia type 8 (SCA8) and myotonic dystrophy type 1 (DM1) CAG expansion transcripts results in the accumulation of SCA8 polyalanine and DM1 polyglutamine expansion proteins in previously established mouse models and human tissue.
RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia
TLDR
It is shown that C9ORF72 antisense transcripts are elevated in the brains of C9 ORF72 expansion-positive [C9(+)] patients, and antisense GGCCCC (G2C4) repeat-expansion RNAs accumulate in nuclear foci in brain and are potential biomarkers of the disease.
An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)
TLDR
It is reported that a non-coding CTG expansion causes a novel form of spinocerebellar ataxia (SCA8), which is the first example of a dominant SCA not caused by a CAG expansion translated as a polyglutamine tract.
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
TLDR
There is a direct correlation between the size of the (CAG)n repeat expansion and the age–of–onset of SCA1, with larger alleles occurring in juvenile cases.
Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8
TLDR
The expression of noncoding (CUG)n expansion transcripts (ataxin 8 opposite strand, ATXN8OS ) and the discovery of intranuclear polyglutamine inclusions suggests SCA8 pathogenesis involves toxic gain-of-function mechanisms at both the protein and RNA levels.
Myotonic dystrophy type 2
TLDR
The clinical and molecular parallels between DM1 and DM2 indicate that the multisystemic features common to both diseases are caused by CUG or CCUG expansions expressed at the RNA level.
Correlating phenotype and genotype in the periodic paralyses
TLDR
This series of 226 patients (127 kindreds) confirms some clinical features of this disorder with notable exceptions: in this series, patients without mutations had a less typical clinical presentation including an older age at onset, no changes in diet as a precipitant, and absence of vacuolar myopathy on muscle biopsy.
Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I
Spinocerebellar ataxia type I (SCAI) is an autosomal dominant neurodegenerative disease caused by the expansion of a CAG trinucleotide repeat on chromosome 6p. Normal alleles range from 19–36 repeats
Spectrin mutations cause spinocerebellar ataxia type 5
TLDR
Cell culture studies demonstrate that wild-type but not mutant β-III spectrin stabilizes EAAT4 at the plasma membrane, which is a previously unknown cause of ataxia and neurodegenerative disease that affect membrane proteins involved in glutamate signaling.
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