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McLeod neuroacanthocytosis: genotype and phenotype
A Danek1, J P Rubio, L Rampoldi
1Neurologische Klinik, Ludwig-Maximilians-Universität, München, Germany. danek@brain.nefo.med.uni-muenchen.de
Annals of Neurology
|January 5, 2002
Summary
McLeod syndrome, caused by XK gene mutations, affects the nervous system and muscles. This study details mutations and clinical features, highlighting basal ganglia involvement and potential links to other neurodegenerative diseases.
Area of Science:
- Genetics
- Neurology
- Hematology
Background:
- McLeod syndrome is an X-linked disorder linked to the XK gene, often presenting as a Kell blood group variant.
- The syndrome affects multiple organs, particularly the nervous system, and is frequently underdiagnosed.
- The precise function of the XK protein remains largely unknown.
Purpose of the Study:
- To analyze XK gene mutations and clinical manifestations in McLeod syndrome patients.
- To investigate the correlation between genotype and phenotype.
- To explore potential pathogenetic links with other neurodegenerative disorders.
Main Methods:
- Genetic analysis of the XK gene in 22 affected males.
- Clinical assessment of neurological and muscular symptoms.
- Neuroimaging studies (e.g., MRI) to evaluate central nervous system involvement.
Main Results:
- Fifteen distinct XK mutations were identified, with nine being novel. These mutations lead to absent or truncated XK protein.
- All patients exhibited elevated muscle creatine phosphokinase; peripheral neuropathy was common.
- Central nervous system involvement, including basal ganglia degeneration, was observed in 15 patients, with symptoms often progressing with age.
Conclusions:
- McLeod syndrome results from various XK mutations, leading to protein dysfunction and diverse clinical presentations.
- The basal ganglia are significantly affected, suggesting a potential role in the syndrome's pathophysiology.
- Similarities with Huntington's disease and chorea-acanthocytosis suggest XK, huntingtin, and chorein may function in a common pathway impacting basal ganglia health.