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Neurology. 2013 May 7;80(19):1771-7. doi: 10.1212/WNL.0b013e3182919059. Epub 2013 Apr 17.

Clinicopathologic variability of the GRN A9D mutation, including amyotrophic lateral sclerosis.

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1
Departments of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.

Abstract

OBJECTIVE:

We examined the clinical and pathologic phenotypes of GRN mutation carriers with the pathogenic A9D (g.26C>A) missense mutation.

METHODS:

Three patients with GRN A9D mutations were evaluated clinically and came to autopsy with subsequent neuropathologic examination.

RESULTS:

The clinical diagnoses of patients with GRN A9D mutations were amyotrophic lateral sclerosis, atypical extrapyramidal disorder, and behavioral variant frontotemporal dementia. Immunohistochemistry for TAR DNA-binding protein 43 (TDP-43) revealed variability in morphology and distribution of pathology. One patient had notable involvement of motor neurons in the spinal cord as well as type B TDP-43, whereas 2 other patients had type A TDP-43.

CONCLUSIONS:

The clinical presentation of the GRN A9D missense mutation is not restricted to behavioral variant frontotemporal dementia and may include aphasia, extrapyramidal features, and, notably, amyotrophic lateral sclerosis.

PMID:
23596077
PMCID:
PMC3719429
DOI:
10.1212/WNL.0b013e3182919059
[Indexed for MEDLINE]
Free PMC Article
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