Neurochemical abnormalities in premanifest and early spinocerebellar ataxias.

ABSTRACT:

Objective

To investigate whether early neurochemical abnormalities are detectable by high-field magnetic resonance spectroscopy (MRS) in individuals with spinocerebellar ataxias (SCAs) 1, 2, 3, and 6, including patients without manifestation of ataxia.

Methods

A cohort of 100 subjects (N = 18-21 in each SCA group, including premanifest mutation carriers; mean score on the Scale for the Assessment and Rating of Ataxia [SARA] <10 for all genotypes, and 22 matched controls) was scanned at 7 Tesla to obtain neurochemical profiles of the cerebellum and brainstem. A novel multivariate approach (distance-weighted discrimination) was used to combine regional profiles into an "MRS score."

Results

MRS scores robustly distinguished individuals with SCA from controls, with miscla

SUBMITTER: Joers JM 

PROVIDER: S-EPMC5912959 | biostudies-literature | 2018 Apr

REPOSITORIES: biostudies-literature