Monogenic Causes of Strokes.

Area of Science:

• Neurology
• Genetics
• Internal Medicine

Background:

• Strokes represent a leading global cause of mortality and long-term disability.
• Stroke etiology is multifactorial, involving both environmental and genetic influences.
• Monogenic disorders constitute a small but significant percentage (1-5%) of all stroke cases.

Purpose of the Study:

• To present the clinical phenotypes of key single-gene disorders associated with stroke.
• To highlight the importance of identifying monogenic stroke causes for timely intervention.

Main Methods:

• Review of clinical phenotypes for major single-gene stroke-related disorders.
• Identification of common monogenic conditions linked to stroke, including CADASIL, Fabry disease, MELAS, COL4A1 syndrome, CARASIL, and HERNS.

Main Results:

• Several single-gene disorders are associated with stroke, particularly those affecting cerebral small-vessel disease.
• Key conditions discussed include CADASIL, Fabry disease, MELAS, COL4A1 syndrome, CARASIL, and HERNS.
• The clinical presentation of these monogenic disorders varies but is linked to stroke occurrence.

Conclusions:

• Monogenic causes of stroke are infrequent but necessitate early diagnosis.
• Prompt identification allows for the implementation of available, targeted therapies.
• Understanding these genetic conditions is vital for comprehensive stroke management.