Fabry disease: neurological features
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Fabry disease: neurological features. This is caused by mutations in the alpha-galactosidase (GLA) gene. Fully referenced neurology checklist.
Genetic features
- This is caused by mutations in the alpha-galactosidase (GLA) gene
- The gene is on xhromosome Xq22
- The transmission is X-linked
Demographic features
Locked: subscribe to see this section.
Thrombotic stroke
Locked: subscribe to see this section.
Embolic stroke: risks
Locked: subscribe to see this section.
Other central nervous system features
Locked: subscribe to see this section.
Small fiber peripheral neuropathy (PN)
Locked: subscribe to see this section.
Episodic pain (Fabry crises): triggers
Locked: subscribe to see this section.
Acroparaesthesias: differential diagnosis
Locked: subscribe to see this section.
References
- MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet 2001; 38:750-760.
- Kolodny EH, Pastores GM. Anderson-Fabry disease: extrarenal, neurologic manifestations. J Am Society Nephrol 2002; 13:S150-as153.
- Ginsberg L, Valentine A, Mehta A. Fabry disease. Pract Neurol 2005; 5:110-113.
- Fellgiebel A, Muller MJ, Ginsberg L. CNS manifestations of Fabry's disease. Lancet Neurol 2006; 5:791-795.
- Sims K, Politei J, Banikazemi M, Lee P. Stroke in Fabry disease frequently occurs before diagnosis and in the absence of other clinical events: natural history data from the Fabry Registry. Stroke 2009; 40:788-794.
- And 1 more. Subscribe to see the full list
