Inherited white matter disorders
Gene: CYP27A1
1. In 2018, an International group of experts published an updated version of a ‘Practical approach to the diagnosis of adult-onset leukodystrophies’ which includes the following quote;
‘After excluding common acquired leukoencephalopathies, the first priority should be to identify patients with an inherited metabolic disorder.’
This includes CTX and goes on to highlight some of the common clinical features to corroborate a suspected diagnosis.
2. In 2004 Verrips et al wrote a chapter in ‘Neurocutaneous Disorders’ on CTX which, noted that the majority of advanced CTX patients have white matter findings on CT and / or MRI often including the cerebellum and pyramidal tract but also including a range of other presentations throughout the brain, brainstem & spinal cord.
In summary, CTX is a metabolic condition with progressive involvement of the white matter correlated with a range of neurological symptoms including leukodystrophies.
References
1. Lynch et al, Practical Approach to the diagnosis of adult onset leukodystrophies: an updated guide for the genomics era. J Neurol Neurosurg Psychiatry (2018) Published Online First: 22 November 2018. doi: 10.1136/jnnp-2018-319481
2. Verrips, A., Cruysberg, J., & Wevers, R. (2004). Cerebrotendinous xanthomatosis. In E. Roach & V. Miller (Eds.), Neurocutaneous Disorders (pp. 248-257). Cambridge: Cambridge University Press. doi:10.1017/CBO9780511545054.032Created: 18 Apr 2019, 3:03 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebrotendinous xanthomatosis, 213700 Inherited white matter disorders.
Publications
Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer. Multiple cases with different variants reported in OMIM. On the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951.Created: 12 Aug 2016, 7:48 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: CYP27A1 were changed from General Leukodystrophy & Mitochondrial Leukoencephalopathy; Cerebrotendinous xanthomatosis to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Cerebrotendinous xanthomatosis, 213700
6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
This gene has been classified as Green List (High Evidence).
Publications for CYP27A1 were set to 25655951
This gene has been classified as Green List (High Evidence).
Phenotypes for CYP27A1 were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy;Cerebrotendinous xanthomatosis
CYP27A1 was created by [email protected]
CYP27A1 was added to Inherited white matter disorderspanel. Sources: Expert list