liu.seSearch for publications in DiVA
Change search
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • harvard1
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • oxford
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf
Idiopathic Small Fiber Neuropathy: Phenotype, Etiologies, and the Search for Fabry Disease
Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm, Sweden.
Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm, Sweden.
Linköping University, Department of Clinical and Experimental Medicine, Division of Neuroscience. Linköping University, Faculty of Health Sciences. Östergötlands Läns Landsting, Local Health Care Services in Central Östergötland, Department of Neurology.
University of Rostock, Germany .
Show others and affiliations
2014 (English)In: Journal of Clinical Neurology, ISSN 1738-6586, Vol. 10, no 2, 108-118 p.Article in journal (Refereed) Published
Abstract [en]

Background and Purpose

The etiology of small fiber neuropathy (SFN) often remains unclear. Since SFN may be the only symptom of late-onset Fabry disease, it may be underdiagnosed in patients with idiopathic polyneuropathy. We aimed to uncover the etiological causes of seemingly idiopathic SFN by applying a focused investigatory procedure, to describe the clinical phenotype of true idiopathic SFN, and to elucidate the possible prevalence of late-onset Fabry disease in these patients.

Methods

Forty-seven adults younger than 60 years with seemingly idiopathic pure or predominantly small fiber sensory neuropathy underwent a standardized focused etiological and clinical investigation. The patients deemed to have true idiopathic SFN underwent genetic analysis of the alpha-galactosidase A gene (GLA) that encodes the enzyme alpha-galactosidase A (Fabry disease).

Results

The following etiologies were identified in 12 patients: impaired glucose tolerance (58.3%), diabetes mellitus (16.6%), alcohol abuse (8.3%), mitochondrial disease (8.3%), and hereditary neuropathy (8.3%). Genetic alterations of unknown clinical significance in GLA were detected in 6 of the 29 patients with true idiopathic SFN, but this rate did not differ significantly from that in healthy controls (n=203). None of the patients with genetic alterations in GLA had significant biochemical abnormalities simultaneously in blood, urine, and skin tissue.

Conclusions

A focused investigation may aid in uncovering further etiological factors in patients with seemingly idiopathic SFN, such as impaired glucose tolerance. However, idiopathic SFN in young to middle-aged Swedish patients does not seem to be due to late-onset Fabry disease.

Place, publisher, year, edition, pages
Korean Neurological Association , 2014. Vol. 10, no 2, 108-118 p.
Keyword [en]
etiology; Fabry disease; idiopathic; impaired glucose tolerance; small fiber neuropathy
National Category
Medical and Health Sciences
Identifiers
URN: urn:nbn:se:liu:diva-106282DOI: 10.3988/jcn.2014.10.2.108ISI: 000333775100005OAI: oai:DiVA.org:liu-106282DiVA: diva2:715755
Available from: 2014-05-06 Created: 2014-05-05 Last updated: 2014-10-29Bibliographically approved

Open Access in DiVA

fulltext(605 kB)399 downloads
File information
File name FULLTEXT03.pdfFile size 605 kBChecksum SHA-512
10e1eb086e02f633dcde87f79a8009c8f48b8d070a62dd9989e7288be91baa540d48ff775b215199306e885cd213ac569327ba547fdbcd4bc424eace151ea416
Type fulltextMimetype application/pdf

Other links

Publisher's full text

Authority records BETA

Vrethem, Magnus

Search in DiVA

By author/editor
Vrethem, Magnus
By organisation
Division of NeuroscienceFaculty of Health SciencesDepartment of Neurology
Medical and Health Sciences

Search outside of DiVA

GoogleGoogle Scholar
Total: 401 downloads
The number of downloads is the sum of all downloads of full texts. It may include eg previous versions that are now no longer available

doi
urn-nbn

Altmetric score

doi
urn-nbn
Total: 84 hits
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • harvard1
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • oxford
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf