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

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 t

SUBMITTER: Cannon A 

PROVIDER: S-EPMC3719429 | biostudies-literature | 2013 May

REPOSITORIES: biostudies-literature