Neuropathological Characterisation of McLeod Syndrome With a Proposed New Grading System.

ABSTRACT:

Aims

X-linked McLeod neuroacanthocytosis syndrome (MLS) is a rare neurodegenerative disorder characterised by the presence of red blood cell acanthocytosis and a chorea syndrome. Analogous to Huntington's disease (HD), MLS displays cognitive and behavioural symptoms besides the progressive movement disorder. This study aimed to describe the neuropathology of MLS in the largest case series to date.

Methods

Clinical data were collected, and neuropathological assessments were performed on eight male MLS patients originating from Finland, New Zealand, Switzerland, Scotland and the United States.

Results

Macroscopic data were available from six patients, with five showing atrophy of the basal ganglia, which was more pronounced in the caudate nucleus and to a lesser extent

SUBMITTER: Reuss AM 

PROVIDER: S-EPMC12547491 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature