Question:

What is the predominant inheritance pattern of CADASIL?
1. Sporadic.
2. Autosomal recessive.
3. Autosomal dominant.
4. Maternally transmitted.
5. Polygenic.





Answer:

The correct answer for the question "What is the predominant inheritance pattern of CADASIL?" is:

3. Autosomal dominant.



Explanation
1. CADASIL may be rarely sporadic. [Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a non-amyloid type of small vessel arterial disease caused by a mutation of the NOTCH3 gene on chromosome 19q12].

2. CADASIL inheritance pattern is not recessive. [Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a non-amyloid type of small vessel arterial disease caused by a mutation of the NOTCH3 gene on chromosome 19q12].

3. CADASIL is inherited in an autosomal dominant pattern and is rarely sporadic. [Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a non-amyloid type of small vessel arterial disease caused by a mutation of the NOTCH3 gene on chromosome 19q12].

4. CADASIL is not maternally transmitted. [MELAS is a maternally transmitted inherited disorder that is readily diagnosed with abnormal serum pyruvate and lactate levels].

5. CADASIL is not polygenic. [Cerebral autosomal dominant arteriopathy with subcortical infracts and leukoencephalopathy (CADASIL) is a non-amyloid type of small vessel arterial disease caused by a mutation of the NOTCH3 gene on chromosome 19q12].



From the manuscript:
Acute Watershed Infarcts with Global Cerebral Hypoperfusion in Symptomatic CADASIL
Radiology Case. 2013 Mar; 7(3):8-15


This article belongs to the Neuro section.




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From the manuscript

Acute Watershed Infarcts with Global Cerebral Hypoperfusion in Symptomatic CADASIL

Free full text article: Acute Watershed Infarcts with Global Cerebral Hypoperfusion in Symptomatic CADASIL

Abstract
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common form of hereditary cerebral angiopathy. We present a case in which a pattern of diffusion signal change compatible with bihemispheric acute watershed infarcts occurred in a symptomatic patient demonstrating global hypoperfusion. To our knowledge, watershed infarcts in the clinical presentation of CADASIL have not been previously described.






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1. Cerebral autosomal dominant arteriopathy with subcortical infracts and leukoencephalopathy

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