The natural history of hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) in 97 Japanese patients

8Citations
Citations of this article
18Readers
Mendeley users who have this article in their library.

Abstract

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.

Register to see more suggestions

Mendeley helps you to discover research relevant for your work.

Already have an account?

Cite

CITATION STYLE

APA

Fujisaki, N., Suwazono, S., Suehara, M., Nakachi, R., Kido, M., Fujiwara, Y., … Nakagawa, M. (2018). The natural history of hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) in 97 Japanese patients. Intractable and Rare Diseases Research, 7(1), 7–12. https://doi.org/10.5582/irdr.2017.01084

Readers' Seniority

Tooltip

Researcher 5

50%

PhD / Post grad / Masters / Doc 4

40%

Lecturer / Post doc 1

10%

Readers' Discipline

Tooltip

Medicine and Dentistry 4

40%

Biochemistry, Genetics and Molecular Bi... 4

40%

Nursing and Health Professions 1

10%

Neuroscience 1

10%

Save time finding and organizing research with Mendeley

Sign up for free