Tags

Type your tag names separated by a space and hit enter

[Neurological manifestations of Fabry disease].
Rev Neurol. 2006 Dec 16-31; 43(12):739-45.RN

Abstract

AIM

To present a review of the neurological manifestations, diagnosis and treatment of Fabry disease.

DEVELOPMENT

Fabry disease is a hereditary deficiency of lisosomal alpha-galactosidase A resulting in accumulation of globotriaosylceramide in vascular endothelium and smooth-muscle cells. Neurological manifestations include severe attacks of neuropathic pain and acroparesthesias at early age and small-vessel occlusive disease in adults. Other manifestations are renal dysfunction, cardiomyopathy, abdominal pain, deafness, angiokeratoma and corneal opacity. Cerebrovascular involvement results from small-arteries lipid deposition, impairment in cerebrovascular reactivity, vertebrobasilar ectasia as well as vascular risk factors such as nephrogenic hypertension and cardiac disease. Fabry disease prevalence seems to be higher than previously described and currently many patients might be underdiagnosed.

CONCLUSIONS

Fabry disease must be included in the differential diagnosis of stroke in young people, particularly in those with criptogenic etiology, vertebrobasilar location and renal dysfunction. The diagnosis has important therapeutic implications since it is available a replacement therapy with agalsidase, a recombinant enzyme which has been effective in lipid tissue clearance and clinical improvement in Fabry patients.

Authors+Show Affiliations

Laboratorio de Investigación Neurovascular, Unidad Neurovascular Servicio de Neurología, Hospital General Universitari Vall d'Hebron, 08035 Barcelona, Espana. mmendior@ir.vhebron.netNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Review

Language

spa

PubMed ID

17160925

Citation

Mendióroz, M, et al. "[Neurological Manifestations of Fabry Disease]." Revista De Neurologia, vol. 43, no. 12, 2006, pp. 739-45.
Mendióroz M, Fernández-Cadenas I, Montaner J. [Neurological manifestations of Fabry disease]. Rev Neurol. 2006;43(12):739-45.
Mendióroz, M., Fernández-Cadenas, I., & Montaner, J. (2006). [Neurological manifestations of Fabry disease]. Revista De Neurologia, 43(12), 739-45.
Mendióroz M, Fernández-Cadenas I, Montaner J. [Neurological Manifestations of Fabry Disease]. Rev Neurol. 2006 Dec 16-31;43(12):739-45. PubMed PMID: 17160925.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Neurological manifestations of Fabry disease]. AU - Mendióroz,M, AU - Fernández-Cadenas,I, AU - Montaner,J, PY - 2006/12/13/pubmed PY - 2007/3/9/medline PY - 2006/12/13/entrez SP - 739 EP - 45 JF - Revista de neurologia JO - Rev Neurol VL - 43 IS - 12 N2 - AIM: To present a review of the neurological manifestations, diagnosis and treatment of Fabry disease. DEVELOPMENT: Fabry disease is a hereditary deficiency of lisosomal alpha-galactosidase A resulting in accumulation of globotriaosylceramide in vascular endothelium and smooth-muscle cells. Neurological manifestations include severe attacks of neuropathic pain and acroparesthesias at early age and small-vessel occlusive disease in adults. Other manifestations are renal dysfunction, cardiomyopathy, abdominal pain, deafness, angiokeratoma and corneal opacity. Cerebrovascular involvement results from small-arteries lipid deposition, impairment in cerebrovascular reactivity, vertebrobasilar ectasia as well as vascular risk factors such as nephrogenic hypertension and cardiac disease. Fabry disease prevalence seems to be higher than previously described and currently many patients might be underdiagnosed. CONCLUSIONS: Fabry disease must be included in the differential diagnosis of stroke in young people, particularly in those with criptogenic etiology, vertebrobasilar location and renal dysfunction. The diagnosis has important therapeutic implications since it is available a replacement therapy with agalsidase, a recombinant enzyme which has been effective in lipid tissue clearance and clinical improvement in Fabry patients. SN - 0210-0010 UR - https://www.unboundmedicine.com/medline/citation/17160925/[Neurological_manifestations_of_Fabry_disease]_ L2 - http://www.revneurol.com/LinkOut/formMedLine.asp?Refer=2006337&Revista=RevNeurol DB - PRIME DP - Unbound Medicine ER -