Nerve biopsy findings in hemizygous and heterozygous patients with Fabry's disease

Toyooka, Keiko; Saïd, Gérard

doi:10.1007/s004150050125

Cited by 45 publications

(26 citation statements)

References 17 publications

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“…3,[5][6][7][8][9][10][11] Sural nerve biopsies predominantly showed a pronounced reduction of small, thinly myelinated and unmyelinated nerve fibers, whereas large, thickly myelinated fibers were less significantly reduced. 7,8,10,[12][13][14] In accordance with the biopsy studies, our group recently showed that small fiber dysfunction is more prominent than large fiber dysfunction in Fabry patients. 15 Using quantitative sensory testing (QST), we found that vibratory (VDT), cold (CDT), and heat-pain (HP) detection threshold testing adequately characterizes A␤-, A␦-, and C-fiber dysfunction in Fabry patients.…”

supporting

confidence: 54%

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Enzyme replacement therapy improves function of C-, Aδ-, and Aβ-nerve fibers in Fabry neuropathy

et al. 2004

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supporting

confidence: 54%

“…We assume that nerve fiber function in these patients had been severely compromised and that there was even loss of small nerve fibers. 7,8,10,[12][13][14] Again, an adequate recovery of function either requires longer or higher-dosed ERT or will not occur at all in these patients because they have already lost too many nerve fibers.…”

Section: Discussionmentioning

confidence: 99%

Enzyme replacement therapy improves function of C-, Aδ-, and Aβ-nerve fibers in Fabry neuropathy

et al. 2004

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“…ERT improves small fibre function (Hilz et al 2004). Light and electron microscopy of peripheral nerve specimens has shown lipid granules within the endothelium of epineural arterioles, perineural fibroblasts, smooth muscle cells and pericytes, but inclusions in Schwann cells, unmyelinated and myelinated axons are less consistent findings (Kocen and Thomas 1970;Sima and Robertson 1978;Kaye et al 1988;Toyooka and Said 1997). CTS, a mononeuropathy of the median nerve, was superimposed on these classic FD manifestations in the three patients described.…”

Section: Discussionmentioning

confidence: 76%

Carpal Tunnel Syndrome in Fabry Disease

et al. 2011

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Carpal tunnel syndrome (CTS) is a common peripheral mononeuropathy affecting up to 4% of the general population, typically women in late middle age. The incidence in patients with Fabry disease (FD) is unclear, but may affect 25% of patients with this X-linked lysosomal storage disease. We report three cases of CTS in young Caucasian male patients with classical FD, who developed CTS symptoms with supportive nerve conduction study (NCS) findings. Two patients had bilateral CTS and two had evidence of concurrent ulnar nerve neuropathy on NCS, suggesting a systemic process contributed to nerve compression. All were receiving enzyme replacement therapy (ERT) and had a moderate burden of FD complications. It is possible that an increase in connective tissue in the intracarpal canal in FD patients may be incited by injury to fibroblasts, via either accumulation of globotriaosylceramide (GL3) or local ischaemia through endothelial injury. The former hypothesis may be a more plausible explanation for the development of CTS, as histology of the flexor retinaculae from our patients has demonstrated fibroblasts with characteristic vacuolation and excessive myxomatous stroma, despite endothelial clearance of GL3 in these patients receiving ERT. CTS should not be overlooked in FD patients and young patients presenting with CTS should be evaluated for an underlying systemic or genetic disorder. Surgical carpal tunnel decompression was effective in our patients, already troubled by long-standing acroparesthesia, in providing sustained relief of symptoms.

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“…[67] Inflammation in the nerve biopsy has been mentioned in two reports. [89] In one,[8] it was a nonvasculitic epineurial perivascular inflammation, a finding that may be a nonspecific occurrence. [10] In the present case, there was significant endoneurial perivascular inflammation, although only around one vessel.…”

Section: Discussionmentioning

confidence: 99%

Fabry′s disease: An ultrastructural study of nerve biopsy

Gayathri

Yasha

Kanjalkar

et al. 2008

Ann Indian Acad Neurol

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Fabry's disease, an X linked recessive disorder caused by the deficiency of α-galactosidase A (α-gal A), leads to progressive accumulation of glycosphingolipids. We report this rare disease in a 19-year-old boy who presented with angiokeratomas, paresthesia and corneal opacities, and nerve biopsy revealed by electron microscopy lamellated inclusions in the smooth muscle, perineurial and endothelial cells characteristic of Fabry's disease.

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Nerve biopsy findings in hemizygous and heterozygous patients with Fabry's disease

Cited by 45 publications

References 17 publications

Enzyme replacement therapy improves function of C-, Aδ-, and Aβ-nerve fibers in Fabry neuropathy

Enzyme replacement therapy improves function of C-, Aδ-, and Aβ-nerve fibers in Fabry neuropathy

Carpal Tunnel Syndrome in Fabry Disease

Fabry′s disease: An ultrastructural study of nerve biopsy

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