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Brooks et al. Neuroimmunol Neuroinflammation 2016;3:228-31 Neuroimmunology and
DOI: 10.20517/2347-8659.2016.36
Neuroinflammation

www.nnjournal.net
Review Open Access

Neurological manifestations in Fabry

disease

Joseph Bruno Bidin Brooks, Yara Dadalti Fragoso

Department of Neurology, Universidade Metropolitana de Santos, Rua da Constituicao 374, CEP 11015-470, Santos SP, Brazil.
Correspondence to: Dr. Yara Dadalti Fragoso, Department of Neurology, Medical School, UNIMES, Rua da Constituicao 374, CEP 11015-470,
Santos SP, Brazil. E-mail: yara@bsnet.com.br

How to cite this article: Brooks JBB, Fragoso YD. Neurological manifestations in Fabry disease. Neuroimmunol Neuroinflammation 2016;3:228-31.
ABSTRACT
Article history: Fabry disease (FD) is a rare, progressive, multisystem and highly debilitating disease. FD
Received: 26-07-2016 is an X-linked lysosome storage disorder that results in α-galactosidase A deficiency. The
Accepted: 28-07-2016 subsequent accumulation of glycosphingolipids is more evident in vascular endothelium and
Published: 28-10-2016 smooth-muscle cells. The resulting effect of the deposition is generalized inflammation and
vasculopathy, which can also affect the central and peripheral nervous system. FD progresses
Key words: with kidney dysfunction, angiokeratoma of the skin, cardiomyopathy, cerebrovascular
Fabry disease, events and neurological disorders. In the present review, the neurological manifestations of
glycosphingolipids, FD are summarized with emphasis on cerebral vasculopathy, cochlear nerve dysfunction,
α-galactosidase A, psychiatric and cognitive symptoms, autonomic dysfunction and peripheral neuropathy.
enzyme replacement therapy, Enzyme replacement therapy is also discussed in the light of its more prominent effects when
neurology administered early in life, which make it essential to diagnose FD as soon as possible.

INTRODUCTION signs, symptoms and severity of the disease. [5]

Fabry disease (FD; Online mendelian inheritance in α-Gal A deficiency leads to progressive accumulation
man #301500) is a rare, progressive, multisystem and of glycosphingolipids such as globotriaosylceramide
highly debilitating lysosome storage disorder, resulting (GL-3) in various tissues and organs. The accumulation
in α-galactosidase A (α-Gal A) (*300644) deficiency. is predominantly in vascular endothelial and smooth-
FD birth prevalence is approximately 1:40,000 and muscle cells. In the 19th century, William Anderson and
more than 600 mutations in the α-Gal have been Johannes Fabry described angiokeratoma of the skin
described. The disease is X-linked inherited, [1,2] and as the first clinical sign of the disease. Subsequently,
[6]
X-inactivation in women may render them vulnerable identification of kidney dysfunction, cardiomyopathy,
[7]
to severe manifestations of FD. [3,4] Even with the same gastrointestinal disorders, cerebrovascular events
[8]
[9]
gene mutation there is an intrafamilial variability of and other neurological disabilities was reported. These
phenotypical presentation of FD, leading to variable conditions are the most severe clinical manifestation of
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