Related Experiment Video
Updated: Jan 3, 2026
07:33
A Simple Composite Phenotype Scoring System for Evaluating Mouse Models of Cerebellar Ataxia
Published on: May 21, 2010
37.0K
A Preventable Ataxia: Cerebrotendinous Xanthomatosis
Bhagya Shaji1, B Srikumar1, Dileep Ramachandran1
1Department of Neurology, Government Medical College, Trivandrum, Kerala, India.
Annals of Indian Academy of Neurology
|November 19, 2019
Summary
Cerebrotendinous xanthomatosis (CTX) is a treatable metabolic disorder causing ataxia. Early diagnosis via symptoms like tendon xanthomas and cataracts is crucial for preventing severe neurological decline.
Area of Science:
- Biochemistry
- Genetics
- Neurology
Background:
- Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive metabolic disorder.
- It is an underdiagnosed cause of hereditary ataxia, often presenting late.
Observation:
- A 35-year-old man with cognitive decline and adult-onset ataxia was diagnosed with CTX.
- Key diagnostic clues included childhood cataracts and Achilles tendon xanthomas.
- Brain MRI revealed characteristic CTX features, confirmed by CYP27A1 gene mutation.
Findings:
- The patient's delayed diagnosis led to significant, preventable disabilities.
- CTX diagnosis relies on recognizing specific clinical and radiological signs.
- Genetic confirmation involves identifying mutations in the CYP27A1 gene.
Implications:
- Earlier recognition of CTX can prevent severe neurological impairment.
- Oral chenodeoxycholic acid is the definitive treatment, halting cholestanol accumulation.
- Understanding CTX pathogenesis is vital for timely intervention and improved patient outcomes.
More Related Videos
Related Concept Videos
01:20Inborn Errors of Metabolism
663
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
663
02:59Animal Mitochondrial Genetics
8.9K
Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
8.9K
01:43Sex-linked Disorders
108.0K
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
108.0K
01:58X-Inactivation
41.3K
The human X chromosome contains over ten times the number of genes as in the Y chromosome. Since males have only one X chromosome, and females have two, one might expect females to produce twice as many of the proteins, with undesirable results.
41.3K
01:19X-linked Traits
58.1K
In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
58.1K