GLORIA

GEOMAR Library Ocean Research Information Access

feed icon rss

Your email was sent successfully. Check your inbox.

An error occurred while sending the email. Please try again.

Proceed reservation?

Export
Filter
  • Articles  (3)
  • Sural nerve biopsy  (3)
  • 1
    ISSN: 1432-0533
    Keywords: Key words Adrenoleukodystrophy ; Adrenomyeloneuropathy ; Mitochondrial abnormalities ; Sural nerve biopsy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Clinical and sural nerve biopsy findings in two brothers and their mother affected by adrenomyeloneuropathy/adrenoleukodystrophy (AMN/ALD) illustrate the variability of histopathological changes in this disorder. The number of diagnostic inclusions, i.e., trilaminar leaflets, varied considerably from case to case and showed no correlation to the extent of neurological symptoms. In addition, mitochondrial abnormalities (granular and filamentous inclusions and abnormal cristae), which have not previously been described in AMN/ALD, were detected. These alterations could be secondary to the peroxisomal defect and the increased amount of very long chain fatty acids or could be caused by a more generalized defect.
    Type of Medium: Electronic Resource
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
  • 2
    ISSN: 1432-0533
    Keywords: Key words X-linked Charcot-Marie-Tooth disease ; Charcot-Marie-Tooth disease type 2 ; Hereditary ; motor and sensory neuropathy ; Connexin32 mutations ; Sural nerve biopsy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract X-linked Charcot-Marie-Tooth neuropathy (CMTX) is caused by mutations in the connexin32 gene on Xq13. Because of overlapping morphological and clinical data, CMTX patients often meet the criteria of autosomal-dominant CMT2, the neuronal type of CMT. Hence, it might be useful to analyse the connexin32 gene in suspected CMT2 patients when there is no male-to-male transmission. We selected a cohort of 30 patients who were considered having CMT2 on the basis of previous clinical and histopathological evaluation. DNA was extracted from paraffin-embedded sural nerve biopsy samples and screened for connexin32 mutations to verify the possible diagnosis of CMTX. In 2 patients mutations were found corresponding to amino acid substitutions of arginine for tryptophan in codon 15 and arginine for glutamine in codon 22 of connexin32. This study illustrates that archival material allows genetic classification of suspected CMT cases. Furthermore, there is additional proof that connexin32 mutations represent the underlying genetic defect in some cases of predominantly neuronal CMT.
    Type of Medium: Electronic Resource
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
  • 3
    ISSN: 1432-0533
    Keywords: Cerebral autosomal dominant arteriopathy Immunoglobulin deposits ; Peripheral neuropathy ; Sural nerve biopsy ; Small vessel disease
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy' (CADASIL) has recently been identified as a hereditary disorder with characteristic fine structural changes of small intracerebral arteries and arterioles. Electron microscopically there are characteristic perivascular deposits of granular electron-dense material resembling immunoglobulin deposits. The present case from a family with four affected members in three successive generations shows that similar vascular changes as described in the central nervous system are present in blood vessels of the sural nerve, although less pronounced and, therefore, affording electron microscopy for their unequivocal detection. Nevertheless it has been shown for the first time that the diagnosis of CADASIL can be verified by a sural nerve biopsy. Occasional focal accumulation of pinocytotic vesicles opposite the granular deposits suggests exocytosis as one of the possible pathomechanisms for their production.
    Type of Medium: Electronic Resource
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
Close ⊗
This website uses cookies and the analysis tool Matomo. More information can be found here...