Autosomal recessive hereditary spastic paraplegia type SPG35 due to a novel variant in the FA2H gene in a Czech patient
| Autor: | Marie Trkova, Pavel Seeman, Jana Lastuvkova, Dana Safka Brozkova, Radim Mazanec, Inna Soldatova, Martina Bittoova, Anna Uhrova Meszarosova, Martin Vyhnalek |
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| Rok vydání: | 2019 |
| Předmět: |
Adult
Male congenital hereditary and neonatal diseases and abnormalities Pathology medicine.medical_specialty Hereditary spastic paraplegia Genes Recessive Mixed Function Oxygenases 03 medical and health sciences Dysarthria 0302 clinical medicine Physiology (medical) Spastic Humans Medicine Gene Massive parallel sequencing Spastic Paraplegia Hereditary business.industry Homozygote General Medicine medicine.disease White matter changes Pedigree nervous system diseases Neurology 030220 oncology & carcinogenesis Mutation Autosomal Recessive Hereditary Spastic Paraplegia Surgery Neurology (clinical) medicine.symptom business Paraplegia 030217 neurology & neurosurgery |
| Zdroj: | Journal of Clinical Neuroscience. 59:337-339 |
| ISSN: | 0967-5868 |
| DOI: | 10.1016/j.jocn.2018.10.094 |
| Popis: | Biallelic pathogenic variants in FA2H gene have been repeatedly described as a cause of hereditary spastic paraplegia (HSP) type35 (SPG35). Targeted massive parallel sequencing (MPS) of the HSP genes panel revealed a novel homozygous variant c.130C > T (p.P44S) in the FA2H gene in the 30-year-old patient presenting with spastic paraplegia. The patient originated form the Czech minority in Romania. The patient manifests typical clinical signs for SPG35 (youth onset gait impairment, progressive spastic paraparesis on lower limbs, dysarthria, white matter changes in MRI). |
| Databáze: | OpenAIRE |
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