The natural history of hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) in 97 Japanese patients
| Autor: | Natsumi Fujisaki, Masanori Nakagawa, Miwako Kido, Hiroshi Takashima, Ryo Nakachi, Saki Oshiro, Masahito Suehara, Yoshihisa Fujiwara, Shugo Suwazono, Takashi Tokashiki |
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| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
business.industry Sensory system General Medicine Disease medicine.disease Bioinformatics Dysphagia Natural history 03 medical and health sciences 030104 developmental biology 0302 clinical medicine Respiratory failure medicine Original Article medicine.symptom Abnormality Amyotrophic lateral sclerosis Hereditary motor and sensory neuropathy business 030217 neurology & neurosurgery |
| Zdroj: | Intractable & Rare Diseases Research. 7:7-12 |
| ISSN: | 2186-361X 2186-3644 |
| DOI: | 10.5582/irdr.2017.01084 |
| Popis: | Hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) is a motor and sensory neuronopathy with autosomal dominant inheritance, adult onset, slowly progressive course, and is associated with TRK-fused gene (TFG) mutation. At advanced stages, respiratory failure and dysphagia becomes life-threatoning, and patients typically die by their 70s. Although there is currently no evidence for effective treatment, a therapy may be found by elucidation of the function of TFG. Recently its pathomechanism has been proposed to be associated with abnormalities in protein transfer from the endoplasmic reticulum. Such pathomechanisms might involve a similar process in amyotrophic lateral sclerosis; thus, its pathomechanisms and treatment strategy might make it a good model for neurodegenerative disorders. It is of great value to clarify the natural history of HMSN-P, in oder to judge the treatment effect. By evaluating 97 patients (79 out of 97 were examined and all confirmed with p.Pro 285 Leu mutation) in this study, it was confirmed that this disease follows a uniform course in the earlier stages, and there are individual differences in the onset between 20 and 30 years. Such uniformity might be due to the proposed single gene abnormality. At advanced stages, there are larger individual differences in the progression, but the reasons for these are unknown. Longer survival might be achieved with a better care for respiratory failure and dysphagia if such cares were undertaken at appropriate times. |
| Databáze: | OpenAIRE |
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