Later-onset fabry disease : An adult variant presenting with the cramp-fasciculation syndrome

Christopher S NANCE; Christopher J KLEIN; Maryam BANIKAZEMI; Steven H DIKMAN; Robert G PHELPS; Justin C MCARTHUR; Moses RODRIGUEZ; Robert J DESNICK

doi:10.1001/archneur.63.3.453

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Later-onset fabry disease : An adult variant presenting with the cramp-fasciculation syndrome

Journal article

Open access

Peer reviewed

Later-onset fabry disease : An adult variant presenting with the cramp-fasciculation syndrome

Christopher S NANCE, Christopher J KLEIN, Maryam BANIKAZEMI, Steven H DIKMAN, Robert G PHELPS, Justin C MCARTHUR, Moses RODRIGUEZ and Robert J DESNICK

Archives of neurology (Chicago), Vol.63(3), pp.453-457

2006

DOI: 10.1001/archneur.63.3.453

PMID: 16533976

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Abstract

Background: Classic Fabry disease, an X-linked recessive lysosomal storage disease due to the deficient activity of alpha-galactosidase A, typically presents in early childhood with acroparesthesias, angiokeratomas, hypohidrosis, and corneal dystrophy. The neuropathic pain presumably results from glycosphingolipid accumulation in the vascular endothelium and in small-caliber nerve fibers, and is treatable by enzyme replacement therapy. Later-onset variants with residual alpha-galactosidase A activity lack vascular endothelial involvement and classic symptoms, which lead to the development of cardiac and/or renal disease after the fourth decade of life. Objective: To expand the later-onset Fabry phenotype to include cramp-fasciculation syndrome without small-fiber neuropathy. Methods: A 34-year-old man who presented with chronic exercise-induced pain, fasciculations, and cramps of the feet and legs, and his similarly affected mother, were evaluated. Clinical, biochemical, and molecular studies were performed. Results: Clinical evaluation suggested the diagnosis of Fabry disease, which was confirmed by reduced plasma and leukocyte alpha-galactosidase A activities (8.8% and 13.4% of normal, respectively) due to a missense A143T mutation. His mother was heterozygous for the A143T mutation. Conclusion: The presentation of cramps and fasciculations without apparent small-fiber neuropathy expands the phenotype of later-onset Fabry disease.

Neurology

Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy

Biological and medical sciences

Medical sciences

Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases

Nervous system (semeiology, syndromes)

Details

Title: Subtitle: Later-onset fabry disease : An adult variant presenting with the cramp-fasciculation syndrome
Creators: Christopher S NANCE - Peripheral Neuropathy Research Center, Mayo Clinic, Rochester, Minn, United States
Christopher J KLEIN - Peripheral Neuropathy Research Center, Mayo Clinic, Rochester, Minn, United States
Maryam BANIKAZEMI - Department of Human Genetics, Mount Sinai School of Medicine, New York, NY, United States
Steven H DIKMAN - Department of Pathology, Mount Sinai School of Medicine, New York, NY, United States
Robert G PHELPS - Department of Dermatology, Mount Sinai School of Medicine, New York, NY, United States
Justin C MCARTHUR - Departments of Neurology and Epidemiology, Johns Hopkins School of Medicine, Baltimore, Md, United States
Moses RODRIGUEZ - Multiple Sclerosis Research Center, Mayo Clinic, Rochester, Minn, United States
Robert J DESNICK - Department of Human Genetics, Mount Sinai School of Medicine, New York, NY, United States
Resource Type: Journal article
Publication Details: Archives of neurology (Chicago), Vol.63(3), pp.453-457
DOI: 10.1001/archneur.63.3.453
PMID: 16533976
NLM abbreviation: Arch Neurol
ISSN: 0003-9942
eISSN: 1538-3687
Publisher: American Medical Association; Chicago, IL
Language: English
Date published: 2006
Academic Unit: Neurology
Record Identifier: 9984013116402771

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