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Cerebrotendinous xanthomatosis: possible higher prevalence than previously recognized
Matthew T Lorincz1, Shirley Rainier, Donald Thomas
1Department of Neurology, University of Michigan, Ann Arbor, 48109, USA.
Archives of Neurology
|September 15, 2005
Summary
Cerebrotendinous xanthomatosis (CTX) is a rare neurodegenerative disorder. This study identifies a specific CYP27 mutation (R362C) and suggests CTX is more common than previously thought.
Area of Science:
- Biochemistry
- Genetics
- Neurology
Background:
- Cerebrotendinous xanthomatosis (CTX) is a rare neurodegenerative disorder.
- It is caused by a deficiency in 27-sterol hydroxylase (CYP27).
- CTX is treatable, highlighting the need for accurate diagnosis.
Observation:
- A family with CTX presented with atypical features including congenital cataracts and early cognitive impairment.
- The proband exhibited severe white matter abnormalities.
- Genetic analysis revealed the proband was homozygous for the CYP27 mutation R362C.
Findings:
- The CYP27 mutation R362C was identified in affected family members.
- Analysis of control subjects indicated a carrier frequency of approximately 1 in 115 for this mutation.
- The estimated prevalence of CTX due to the R362C mutation is about 1 in 50,000 among white individuals.
Implications:
- The prevalence of CTX may be underestimated.
- Increased awareness of CTX is crucial for timely diagnosis and treatment.
- Genetic screening can identify individuals at risk for this treatable neurodegenerative disorder.