Fabry disease: neurological features
Evidence-based neurology checklist on fabry disease: neurological features: 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 Thrombotic stroke Embolic stroke: risks Other central…
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
Thrombotic stroke
Embolic stroke: risks
Other central nervous system features
Small fiber peripheral neuropathy (PN)
Episodic pain (Fabry crises): triggers
Acroparaesthesias: differential diagnosis
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.
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