AI Article Synopsis
- Pontocerebellar hypoplasia (PCH) is a rare neurodegenerative disorder characterized by cerebellar ataxia and linked to various gene mutations.
- A study presented a familial case of late-onset hereditary ataxia that mimics PCH symptoms, alongside imaging and genetic analysis.
- Researchers identified a novel mutation in the TSEN54 gene, suggesting a new subtype of hereditary ataxia distinct from PCH, which typically has prenatal onset and primarily impacts neuron growth.
Article Abstract
Pontocerebellar hypoplasia (PCH) comprises a rare group of neurodegenerative disorders with variable symptoms of cerebellar ataxia. Several gene mutations have been reported to be associated with different presentations of PCH. In the present study, an extended familial case of late‑onset hereditary ataxia mimicking PCH in respect of clinical manifestation, neuroradiological findings and genetic analysis is described. By means of direct sequencing, a novel heterozygous mutation was found in the TSEN54 gene by c.254A > T(+) (p.E85V), which may be a new subtype of hereditary ataxia. However, this subtype was shown to exhibit late onset, differing from PCH with prenatal onset and predominantly affecting the growth of neurons.
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| http://dx.doi.org/10.3892/mmr.2014.2342 | DOI Listing |
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