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Phenotypic variability of CADASIL and novel morphologic findings
A Rubio1, D Rifkin, J M Powers
1Department of Pathology, University of Rochester Medical Center, NY 14642, USA. arubio@pathology.rochester.edu
Acta Neuropathologica
|September 18, 1997
Summary
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) diagnosis can be challenging. Atypical features and peripheral biopsy findings broaden understanding of CADASIL
Area of Science:
- Neurology
- Pathology
- Genetics
Background:
- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a genetic arteriopathy affecting small brain vessels.
- The hallmark is granular osmiophilic material (GOM) in the arterial media, typically diagnosed via brain biopsy.
Observation:
- Atypical CADASIL features observed include cortical infarcts and GOM in a young patient with hemiplegic migraine and family history.
- Preclinical diagnosis is possible through peripheral biopsy in individuals with a family history of CADASIL.
- A sporadic patient with clinicoradiologic CADASIL showed no diagnostic lesions in peripheral arteries, indicating potential false-negative biopsy results.
Findings:
- Granular osmiophilic material (GOM) accumulation in peripheral arteries aids in diagnosing cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
- Peripheral artery biopsy can detect CADASIL even before clinical symptoms manifest, especially in those with a family history.
- Reliance solely on peripheral biopsy may lead to false-negative CADASIL diagnoses in some individuals.
Implications:
- Broadens the understanding of CADASIL's phenotypic variability and diagnostic criteria.
- Highlights the utility and limitations of peripheral biopsies for early and definitive CADASIL diagnosis.
- Identifies heat shock proteins and ubiquitin in affected arteries, suggesting novel pathomechanisms in CADASIL.