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Autosomal recessive hereditary spastic paraplegia type SPG35 due to a novel variant in the FA2H gene in a Czech patient

التفاصيل البيبلوغرافية
العنوان: Autosomal recessive hereditary spastic paraplegia type SPG35 due to a novel variant in the FA2H gene in a Czech patient
المؤلفون: Marie Trkova, Pavel Seeman, Jana Lastuvkova, Dana Safka Brozkova, Radim Mazanec, Inna Soldatova, Martina Bittoova, Anna Uhrova Meszarosova, Martin Vyhnalek
المصدر: Journal of Clinical Neuroscience. 59:337-339
بيانات النشر: Elsevier BV, 2019.
سنة النشر: 2019
مصطلحات موضوعية: 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
الوصف: 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).
تدمد: 0967-5868
DOI: 10.1016/j.jocn.2018.10.094
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e859ba6b570264f6fdc1cf8da358c20
https://doi.org/10.1016/j.jocn.2018.10.094
Rights: CLOSED
رقم الانضمام: edsair.doi.dedup.....7e859ba6b570264f6fdc1cf8da358c20
قاعدة البيانات: OpenAIRE
الوصف
تدمد:09675868
DOI:10.1016/j.jocn.2018.10.094