Unknown

Dataset Information

0

Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy.

ABSTRACT: In this report, we describe the first known patient with a deficiency of sterol carrier protein X (SCPx), a peroxisomal enzyme with thiolase activity, which is required for the breakdown of branched-chain fatty acids. The patient presented with torticollis and dystonic head tremor as well as slight cerebellar signs with intention tremor, nystagmus, hyposmia, and azoospermia. Magnetic resonance imaging showed leukencephalopathy and involvement of the thalamus and pons. Metabolite analyses of plasma revealed an accumulation of the branched-chain fatty acid pristanic acid, and abnormal bile alcohol glucuronides were excreted in urine. In cultured skin fibroblasts, the thiolytic activity of SCPx was deficient, and no SCPx protein could be detected by western blotting. Mutation analysis revealed a homozygous 1-nucleotide insertion, 545_546insA, leading to a frameshift and premature stop codon (I184fsX7).

SUBMITTER: Ferdinandusse S 

PROVIDER: S-EPMC1474093 | biostudies-literature | 2006 Jun

REPOSITORIES: biostudies-literature

Json Xml
altmetric image

Publications

Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy.

Ferdinandusse S S   Kostopoulos P P   Denis S S   Rusch H H   Overmars H H   Dillmann U U   Reith W W   Haas D D   Wanders R J A RJ   Duran M M   Marziniak M M  

American journal of human genetics 20060329 6

In this report, we describe the first known patient with a deficiency of sterol carrier protein X (SCPx), a peroxisomal enzyme with thiolase activity, which is required for the breakdown of branched-chain fatty acids. The patient presented with torticollis and dystonic head tremor as well as slight cerebellar signs with intention tremor, nystagmus, hyposmia, and azoospermia. Magnetic resonance imaging showed leukencephalopathy and involvement of the thalamus and pons. Metabolite analyses of plas  ...[more]

Similar Datasets

Unknown Neuropathy target esterase gene mutations cause motor neuron disease.
| S-EPMC2427280 | biostudies-literature
Unknown Defective peroxisomal catabolism of branched fatty acyl coenzyme A in mice lacking the sterol carrier protein-2/sterol carrier protein-x gene function.
| S-EPMC316706 | biostudies-literature
Unknown Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy.
| S-EPMC2833394 | biostudies-literature
Unknown Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay.
| S-EPMC3049385 | biostudies-literature
Unknown Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy.
| S-EPMC4023208 | biostudies-literature
Unknown Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome.
| S-EPMC7332643 | biostudies-literature
Unknown Mutations in LOXHD1 gene can cause auditory neuropathy spectrum disorder.
| S-EPMC9307087 | biostudies-literature
Unknown Mutations in the SIGMAR1 gene cause a distal hereditary motor neuropathy phenotype mimicking ALS: Report of two novel variants.
| S-EPMC7387213 | biostudies-literature
Unknown Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.
| S-EPMC1180490 | biostudies-literature
Unknown Mutations in GNAL cause primary torsion dystonia.
| S-EPMC3530620 | biostudies-literature