Phenotypic and molecular analyses of primary lateral sclerosis.

ABSTRACT:

Objective

To understand phenotypic and molecular characteristics of patients with clinically "definite" primary lateral sclerosis (PLS) in a prospective study.

Methods

Six sites enrolled 41 patients who had pure upper motor neuron dysfunction, bulbar symptoms, a normal EMG done within 12 months of enrollment, and onset of symptoms ≥5 years before enrollment. For phenotypic analyses, 27 demographic, clinical, and cognitive variables were analyzed using the k-means clustering method. For molecular studies, 34 available DNA samples were tested for the C9ORF72 mutation, and exome sequencing was performed to exclude other neurologic diseases with known genetic cause.

Results

K-means clustering using the 25 patients with complete datasets suggested that patients with PLS ca

SUBMITTER: Mitsumoto H 

PROVIDER: S-EPMC4821084 | biostudies-literature | 2015 Jun

REPOSITORIES: biostudies-literature