Related Subjects:
|Neurological History taking
| Causes of Stroke
| Ischaemic Stroke
|Hypertension
|Small Vessel Disease
|CADASIL
|CARASIL
Always enquire about migraine and a family history of stroke and dementia in young patients with stroke
CADASIL is a pure, monogenic form of cerebral small vessel disease, which is characterized by both a high prevalence of microbleeds on MRI and white matter strokes. Consider it in any patient presenting with SVD especially with a family history in their early 50s or younger
The main organ affected is the brain but there is also evidence that there may be more systemic manifestations as GOM deposits are found in the skin. Renal changes may be seen[6]. There is a need for more study into systemic effects.
Classical tip: White
matter changes in the anterior temporal pole and in
the external capsule can serve as a useful neuroimaging
marker for the diagnosis, and moderate to severe changes
in the anterior temporal pole may have a sensitivity of
89% and specificity of 86% for CADASIL, whereas lesions
in the external capsule show high sensitivity (93%) but
low specificity (45%). Microbleeds may also be seen.
Is an acronym for Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CARASIL) and is similar to CADASIL but autosomal recessive and very rare. Identified mainly in China and Japan. CARASIL is caused by mutations in the HTRA1 gene. Patients present a decade younger in their 30s. Patients present with ischaemic stroke or a stepwise deterioration in brain functions. There is a progressive euphoria and emotional lability, dementia, premature baldness, and attacks of severe low back pain or spondylosis deformans/disk herniation. Imaging by MRI shows diffuse white matter changes and multiple lacunar infarctions in the basal ganglia and thalamus. Histopathologically identifies intense arteriosclerosis, mainly in the small penetrating arteries, without granular osmiophilic materials or
amyloid deposition [9].
Introduction
Prevalence
Aetiology
Clinical aspects: There are five important aspects to CADASIL
Investigations
Differentials
Management
CARASIL
References
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CADASIL
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