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Related Experiment Videos

Peripheral nerve and skeletal muscle involvement in CADASIL.

J M Schröder1, S Züchner, M Dichgans

  • 1Department of Neuropathology University Hospital, RWTH Aachen, Pauwelsstr. 30, 52074, Aachen, Germany.

Acta Neuropathologica
|December 6, 2005
PubMed
Summary

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) involves vascular smooth muscle cell (VSMC) degeneration. This study reveals peripheral nerve and muscle structural changes in CADASIL patients, suggesting VSMC membrane defects initiate vascular issues.

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Area of Science:

  • Neurology
  • Genetics
  • Pathology

Background:

  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a genetic disorder affecting small blood vessels.
  • It is caused by Notch3 gene mutations and characterized by vascular smooth muscle cell (VSMC) degeneration.
  • Neuromuscular symptoms are observed in some CADASIL patients, necessitating detailed investigation.

Purpose of the Study:

  • To investigate the fine structural features of peripheral nerve and muscle biopsies in CADASIL patients.
  • To correlate these findings with Notch3 gene mutations and VSMC pathology.
  • To elucidate the underlying mechanisms of neuromuscular involvement in CADASIL.

Main Methods:

  • Electron microscopy of peripheral nerve and muscle biopsy specimens from seven CADASIL patients.

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  • Genetic analysis (Notch3 gene sequencing) to identify mutations.
  • Histopathological examination including assessment of nerve fiber degeneration, neurogenic atrophy, and myopathic changes.

    • Main Results:

    • Degeneration and regeneration of nerve fibers were observed in sural nerves and intramuscular fascicles.
    • Muscle biopsies showed neurogenic atrophy, myopathic changes, ragged red fibers, and abnormal mitochondria.
    • Electron microscopy revealed enlarged mitochondria with calcium precipitates in VSMC.
    • Notch3 mutations were identified in six of the seven patients.

    Conclusions:

    • CADASIL-related small blood vessel degeneration may originate from VSMC surface membrane defects.
    • Chronic ischemia secondary to vascular dysfunction could explain the observed structural changes in skeletal muscle and peripheral nerves.
    • While genetic defects are implicated, the precise interplay causing neuromuscular pathology requires further study.