Neuroenergetic Changes in Patients with X-Linked Dystonia-Parkinsonism and Female Carriers.

ABSTRACT:

Background

X-linked dystonia-parkinsonism (XDP) is a rare movement disorder characterized by profound neurodegeneration in the basal ganglia. The molecular consequences and the bioenergetic state of affected individuals remain largely unexplored.

Objectives

To investigate the bioenergetic state in male patients with XDP and female carriers using ³¹phosphorus magnetic resonance spectroscopy imaging and to correlate these findings with clinical manifestations.

Methods

We examined the levels of high-energy phosphorus-containing metabolites (HEP) in the basal ganglia and cerebellum of five male patients with XDP, 10 asymptomatic female heterozygous carriers, and 10 SVA-insertion-free controls.

Results

HEP levels were reduced in the basal ganglia of patie

SUBMITTER: Prasuhn J 

PROVIDER: S-EPMC11078482 | biostudies-literature | 2024 May

REPOSITORIES: biostudies-literature