Unknown

Dataset Information

0

Multiple system atrophy is not caused by C9orf72 hexanucleotide repeat expansions.

ABSTRACT: Multiple system atrophy (MSA) is a fatal neurodegenerative disorder of unknown etiology that presents with variable combinations of progressive ataxia, parkinsonism, and autonomic instability. Pathologic expansion of a hexanucleotide repeat in the C9orf72 gene has been demonstrated to cause neurodegeneration with diverse neurologic presentations. To test the hypothesis whether pathologic expansions in C9orf72 are a cause of MSA, we undertook genetic screening in 100 neuropathologically confirmed cases. No pathologic repeat expansions were detected suggesting that MSA is not a C9orf72-related neurodegenerative disease.

SUBMITTER: Scholz SW 

PROVIDER: S-EPMC4315721 | biostudies-literature | 2015 Feb

REPOSITORIES: biostudies-literature

Json Xml
altmetric image

Publications

Multiple system atrophy is not caused by C9orf72 hexanucleotide repeat expansions.

Scholz Sonja W SW   Majounie Elisa E   Revesz Tamas T   Holton Janice L JL   Okun Michael S MS   Houlden Henry H   Singleton Andrew B AB  

Neurobiology of aging 20140906 2

Multiple system atrophy (MSA) is a fatal neurodegenerative disorder of unknown etiology that presents with variable combinations of progressive ataxia, parkinsonism, and autonomic instability. Pathologic expansion of a hexanucleotide repeat in the C9orf72 gene has been demonstrated to cause neurodegeneration with diverse neurologic presentations. To test the hypothesis whether pathologic expansions in C9orf72 are a cause of MSA, we undertook genetic screening in 100 neuropathologically confirmed  ...[more]

Similar Datasets

Unknown Multiple system atrophy and amyotrophic lateral sclerosis in a family with hexanucleotide repeat expansions in C9orf72.
| S-EPMC4051831 | biostudies-literature
Unknown C9orf72 hexanucleotide repeat expansions in clinical Alzheimer disease.
| S-EPMC3681841 | biostudies-literature
Unknown C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population.
| S-EPMC3372681 | biostudies-literature
Unknown Improved PCR based methods for detecting C9orf72 hexanucleotide repeat expansions.
| S-EPMC4978699 | biostudies-literature
Unknown TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions.
| S-EPMC4003885 | biostudies-literature
Unknown Viral delivery of C9orf72 hexanucleotide repeat expansions in mice leads to repeat-length-dependent neuropathology and behavioural deficits.
| S-EPMC5536911 | biostudies-other
Unknown Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population.
| S-EPMC3591848 | biostudies-literature
Unknown Expanded C9ORF72 hexanucleotide repeat in depressive pseudodementia.
| S-EPMC4197801 | biostudies-literature
Unknown Validation of a Long-Read PCR Assay for Sensitive Detection and Sizing of C9orf72 Hexanucleotide Repeat Expansions.
| S-EPMC6222278 | biostudies-literature
Unknown Accumulation of dipeptide repeat proteins predates that of TDP-43 in frontotemporal lobar degeneration associated with hexanucleotide repeat expansions in C9ORF72 gene.
| S-EPMC4934135 | biostudies-literature