CADASIL 2

CADASIL: A Rare Genetic Disorder

CADASIL, or Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, is a rare genetic disorder affecting the small blood vessels in the brain. This condition was first coined in 1993.

Key Characteristics of CADASIL:

• Affects the small blood vessels in the brain
• Inherited disorder caused by gene mutations
• Symptoms include migraine headaches and multiple strokes progressing to dementia

CADASIL is a serious medical condition that requires prompt attention from healthcare professionals. If you or someone you know has been diagnosed with CADASIL, it's essential to work closely with a doctor to manage the symptoms and slow down disease progression.

References:

• [2] CADASIL is a rare genetic disorder affecting the small blood vessels in the brain.
• [7] CADASIL (Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is a rare genetic disorder.
• [8] CADASIL, a genetic disorder due to mutations in the NOTCH3 gene, is characterized by migraine with aura, mood disorders, recurrent transient ischemic attacks...

Common Signs and Symptoms of CADASIL

CADASIL, a rare genetic disorder affecting the small blood vessels in the brain, presents with several common symptoms.

• Migraines: Migraine headaches are a prominent feature of CADASIL, often accompanied by aura (warning signs) such as flashing lights or zigzag patterns [2][5].
• Slurred Speech: Difficulty speaking clearly is another symptom experienced by individuals with CADASIL [3].
• Weakness down one side of the body: Weakness or numbness on one side of the body can also occur, often due to small strokes caused by blood vessel damage in the brain [4][6].

These symptoms may be the first indication that a person has CADASIL, especially for women who may experience them earlier than men [3].

Diagnostic Tests for CADASIL

CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a rare inherited disease that can only be confirmed by specific diagnostic tests. Here are the diagnostic tests used to confirm CADASIL:

• Genetic Testing: Genetic testing for NOTCH3 variants is the most accurate way to diagnose CADASIL. This test involves analyzing DNA from a blood sample to look for mutations in the NOTCH3 gene [1, 2]. The sensitivity and specificity of this test are reported to be 95-100% and 100%, respectively [9].
• Skin Biopsy: A skin biopsy can also be used to diagnose CADASIL. This involves taking a small sample of skin tissue from the patient, which is then examined for characteristic changes in the blood vessels [12].

Other Diagnostic Methods

While not as accurate as genetic testing or skin biopsy, other diagnostic methods may also be used to support a diagnosis of CADASIL:

• MRI Scan: An MRI scan can show characteristic changes in the brain that are associated with CADASIL, such as subcortical infarcts and leukoencephalopathy [10].
• Neurological Examination: A neurological examination may also be used to support a diagnosis of CADASIL, particularly if the patient has symptoms such as migraines, depression, and learning disorders during childhood [13].

Important Notes

It's essential to note that CADASIL can only be diagnosed clinically with an MRI scan or by neurological examination. Genetic testing is not always necessary for diagnosis, but it can confirm a diagnosis of CADASIL if the clinical findings are consistent with the disease [6].

The differential diagnosis of CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is a crucial aspect of its diagnosis, as it can be confused with other conditions that present with similar symptoms.

Conditions to Consider:

• Multiple early age infarcts from a hypercoagulable state [1]
• Demyelinating disorders, such as multiple sclerosis [3]
• Binswanger disease [4]
• Sporadic cerebral small vessel disease (SVD) related to age and hypertension [12]

Key Differences:

• CADASIL is characterized by headaches as one of the initial symptoms, whereas other conditions may present with different primary symptoms.
• Temporo-polar MRI lesions are specific for CADASIL, distinguishing it from multiple sclerosis [5].
• Oligoclonal bands in the cerebrospinal fluid are absent in CADASIL, which can help differentiate it from multiple sclerosis [5].

Other Conditions to Consider:

• MELAS syndrome, characterized by bilateral, symmetric cortical and subcortical involvement [6]
• CNS vasculitis, which can be diagnosed using DSA or CTA [6]
• Chronic hypertension, leading to diffuse leukoencephalopathy with microhemorrhages [6]

Important Considerations:

• Family history of stroke or dementia is an important factor in the diagnosis of CADASIL [4].
• Temporal pole lesions are specific for CADASIL, but some patients may not have these lesions [13].

In summary, the differential diagnosis of CADASIL involves considering a range of conditions that can present with similar symptoms. By understanding the key differences and similarities between these conditions, healthcare professionals can make an informed diagnosis and provide appropriate treatment.