Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy

From WikiMD's Wellness Encyclopedia

Autosomal recessive - en
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
[[File:|250px|]]
Synonyms CARASIL
Pronounce N/A
Specialty N/A
Symptoms Stroke, cognitive decline, gait disturbances
Complications
Onset
Duration
Types
Causes HTRA1 gene mutation
Risks
Diagnosis
Differential diagnosis
Prevention
Treatment Symptomatic management
Medication
Prognosis
Frequency Rare
Deaths


Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a rare autosomal recessive genetic disorder that affects the small blood vessels in the brain. It is characterized by the development of subcortical infarcts and leukoencephalopathy, leading to various neurological symptoms.

Signs and symptoms[edit | edit source]

Individuals with CARASIL may experience recurrent stroke-like episodes, cognitive decline, and gait disturbances. These symptoms typically manifest in early to mid-adulthood.

Cause[edit | edit source]

CARASIL is caused by mutations in the HTRA1 gene, which plays a role in maintaining the integrity of blood vessels in the brain. The exact mechanism by which these mutations lead to the characteristic features of CARASIL is not fully understood.

Diagnosis[edit | edit source]

Diagnosis of CARASIL is based on clinical evaluation, imaging studies such as MRI of the brain, and genetic testing to identify mutations in the HTRA1 gene.

Treatment[edit | edit source]

Currently, there is no specific treatment for CARASIL. Management focuses on addressing the individual symptoms, such as physical therapy for gait disturbances and cognitive rehabilitation for cognitive decline.

Prognosis[edit | edit source]

The prognosis for individuals with CARASIL varies depending on the severity of symptoms and complications. The condition is progressive, and individuals may require supportive care as the disease advances.

Epidemiology[edit | edit source]

CARASIL is a rare condition, with only a limited number of cases reported worldwide. It is more common in certain populations with a higher prevalence of the HTRA1 gene mutation.

See also[edit | edit source]

Stub icon

This medical article is a stub. You can help WikiMD by expanding it.


WikiMD
Navigation: Wellness - Encyclopedia - Health topics - Disease Index‏‎ - Drugs - World Directory - Gray's Anatomy - Keto diet - Recipes

Search WikiMD

Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD

WikiMD's Wellness Encyclopedia

Let Food Be Thy Medicine
Medicine Thy Food - Hippocrates

Medical Disclaimer: WikiMD is not a substitute for professional medical advice. The information on WikiMD is provided as an information resource only, may be incorrect, outdated or misleading, and is not to be used or relied on for any diagnostic or treatment purposes. Please consult your health care provider before making any healthcare decisions or for guidance about a specific medical condition. WikiMD expressly disclaims responsibility, and shall have no liability, for any damages, loss, injury, or liability whatsoever suffered as a result of your reliance on the information contained in this site. By visiting this site you agree to the foregoing terms and conditions, which may from time to time be changed or supplemented by WikiMD. If you do not agree to the foregoing terms and conditions, you should not enter or use this site. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.

Retrieved from "https://wikimd.com/w/index.php?title=Cerebral_autosomal_recessive_arteriopathy_with_subcortical_infarcts_and_leukoencephalopathy&oldid=5780097"

Contributors: Prab R. Tumpati, MD