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A case of motor and sensory polyneuropathy and respiratory failure with novel heterozygous mutation of the senataxin gene
- Source :
- Rinsho Shinkeigaku. 60:466-472
- Publication Year :
- 2020
- Publisher :
- Societas Neurologica Japonica, 2020.
-
Abstract
- The patient was a 29-year-old male. He took his first steps at two-and-a-half years old, but his physical strength deteriorated and he became non-ambulatory at 12 years old. He had respiratory failure at the age of 20, and finally underwent tracheostomy with invasive positive-pressure ventilation (TPPV). He showed distal dominant muscle weakness and atrophy, including the face. Spinal scoliosis was recognized. He had peripheral predominance of sensory disorders. Nerve conduction studies showed a decrease of compound muscle action potential and a reduction of motor nerve conduction velocity. Sensory nerve action potential was not evoked. In genetic analysis, c.23 C> T (p. T8M) heterozygous mutation was found in the senataxin gene (SETX). Although SETX is a causative gene of familial amyotrophic lateral sclerosis type 4 (ALS4), this case suggests that SETX mutation can also cause motor and sensory polyneuropathy.
- Subjects :
- Adult
Male
Heterozygote
Pathology
medicine.medical_specialty
Sensory Receptor Cells
Scoliosis
medicine.disease_cause
Polyneuropathies
Atrophy
medicine
Humans
Amyotrophic lateral sclerosis
Child
Motor Neurons
Mutation
Muscle Weakness
business.industry
Amyotrophic Lateral Sclerosis
DNA Helicases
Muscle weakness
medicine.disease
Multifunctional Enzymes
Compound muscle action potential
Respiratory failure
Child, Preschool
Breathing
Neurology (clinical)
medicine.symptom
Respiratory Insufficiency
business
RNA Helicases
Subjects
Details
- ISSN :
- 18820654 and 0009918X
- Volume :
- 60
- Database :
- OpenAIRE
- Journal :
- Rinsho Shinkeigaku
- Accession number :
- edsair.doi.dedup.....b8e267cc94a2a3e2d083ef08182ada6f
- Full Text :
- https://doi.org/10.5692/clinicalneurol.60.cn-001415