A wide spectrum of Hereditary Motor Sensory Neuropathy (HMSN)

正法, 中川

doi:10.5692/clinicalneurol.49.950

Cited by 5 publications

(3 citation statements)

References 7 publications

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“… 15 The clinical features of HMSN-P include adult-onset ALS accompanied by mild sensory disturbance, progressing to bedridden incapacity. 16 Although HMSN-P is inherited as an autosomal dominant characteristic, some patients with HMSN-P may have been included in this study. According to recent reports, a high incidence of ALS persisted in males in Wakayama prefecture, 17 , 18 which is consistent with the findings of our study.…”

Section: Discussionmentioning

confidence: 99%

Prevalence and Incidence of Amyotrophic Lateral Sclerosis in Japan

Doi

Atsuta

Sobue

et al. 2014

Journal of Epidemiology

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BackgroundPrevious studies have reported a high incidence of amyotrophic lateral sclerosis (ALS) in endemic foci in the Kii Peninsula, Japan. However, little is known about the ALS frequency in the whole country. Furthermore, the presence of ethnic variation in the incidence of ALS remains unknown.MethodsWe conducted a nationwide survey of ALS frequency in 2013 to estimate its annual prevalence and incidence. ALS was diagnosed based on the El Escorial Criteria. The study period was the 2009 fiscal year, from April 2009 to March 2010. To compare the incidence of ALS among prefectures, standardized incidence ratios (SIRs) and 95% confidence intervals (CIs) were calculated under the assumption of Poisson distribution.ResultsThe annual crude prevalence and incidence rates per 100 000 people per year were 9.9 (95% CI 9.7–10.1) and 2.2 (95% CI 2.1–2.3), respectively. The age group with the highest prevalence as well as incidence was 70–79 years, and the male-female ratio was approximately 1.5. The annual incidence rate adjusted for age and sex using the 2000 U.S. standard population was 2.3 (95% CI 2.2–2.4) per 100 000 people. Some prefectures had significantly high SIRs: Okinawa, Nara and Wakayama in the Kii Peninsula, and Niigata for males; Kumamoto for females.ConclusionsThis is the first report on the annual prevalence and incidence of ALS in the representative population of Japan. We identified some prefectures with a high incidence of ALS. However, the incidence of ALS in the Japanese population was much lower than in the Caucasian populations of Europe and North America.

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Section: Discussionmentioning

confidence: 99%

Prevalence and Incidence of Amyotrophic Lateral Sclerosis in Japan

Doi

Atsuta

Sobue

et al. 2014

Journal of Epidemiology

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“…1 HMSN-P was first described in patients from the Okinawa Islands of Japan, where more than 100 people are estimated to be affected. 2 Two Brazilian HMSN-P-affected families of Okinawan ancestry have also been reported. 3,4 The disease onset is usually in the 40s and is followed by a slowly progressive course.…”

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confidence: 99%

The TRK-Fused Gene Is Mutated in Hereditary Motor and Sensory Neuropathy with Proximal Dominant Involvement

Ishiura

Sako

Yoshida

et al. 2012

The American Journal of Human Genetics

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106

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Hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) is an autosomal-dominant neurodegenerative disorder characterized by widespread fasciculations, proximal-predominant muscle weakness, and atrophy followed by distal sensory involvement. To date, large families affected by HMSN-P have been reported from two different regions in Japan. Linkage and haplotype analyses of two previously reported families and two new families with the use of high-density SNP arrays further defined the minimum candidate region of 3.3 Mb in chromosomal region 3q12. Exome sequencing showed an identical c.854C>T (p.Pro285Leu) mutation in the TRK-fused gene (TFG) in the four families. Detailed haplotype analysis suggested two independent origins of the mutation. Pathological studies of an autopsied patient revealed TFG- and ubiquitin-immunopositive cytoplasmic inclusions in the spinal and cortical motor neurons. Fragmentation of the Golgi apparatus, a frequent finding in amyotrophic lateral sclerosis, was also observed in the motor neurons with inclusion bodies. Moreover, TAR DNA-binding protein 43 kDa (TDP-43)-positive cytoplasmic inclusions were also demonstrated. In cultured cells expressing mutant TFG, cytoplasmic aggregation of TDP-43 was demonstrated. These findings indicate that formation of TFG-containing cytoplasmic inclusions and concomitant mislocalization of TDP-43 underlie motor neuron degeneration in HMSN-P. Pathological overlap of proteinopathies involving TFG and TDP-43 highlights a new pathway leading to motor neuron degeneration.

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“…Advanced-stage HMSN-P results in severe amyotrophic lateral sclerosis (ALS)like quadriplegia. HMSN-P has recently spread not only in Japan's Okinawa and Shiga prefectures but around the world, including sporadic cases in India (4)(5)(6). In 2017, Fujisaki et al analysed the natural history of 97 patients with HMSN-P in Okinawa whose cases had been documented since 1980, and they reported a natural course of 20 to 30 years from the initial painful muscle cramps and four-limb paralysis to respiratory dysfunction (3).…”

Section: Introductionmentioning

confidence: 99%

Re-survey of 16 Japanese patients with advanced-stage hereditary motor sensory neuropathy with proximal dominant involvement (HMSN-P): Painful muscle cramps for early diagnosis

Shoji,

Sakamoto,

Saito

et al. 2023

IRDR

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painful muscle cramp, abdominal cramp, hereditary motor sensory neuropathy with proximal dominant involvement, HMSN-P, nucleic acid medicine, induced pluripotent stem cell Hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) is an intractable neurological disease with autosomal dominant inheritance, four-limb weakness, sensory impairment, and a slowly progressive course. HMSN-P patients develop four-limb paralysis at the advanced-stage, as in amyotrophic lateral sclerosis (ALS). There is a natural 20-to 30-year course from initial painful muscle cramps and four-limb paralysis to respiratory dysfunction. A delay in the diagnosis of HMSN-P occurs due to the 20-to 30-year span from the initial symptom(s) to typical quadriplegia. Its early diagnosis is important, but the involvement of painful muscle cramps as an early symptom has not been clear. Following our earlier survey, we conducted a re-survey focusing on painful muscle cramps, assistive-device use, and hope for specific therapies in 16 Japanese patients with advanced-stage HMSN-P. Fifteen patients presented painful muscle cramps as the initial symptom, and muscle cramps in the lower abdomen including the flank were described by 10 of the patients. The presence of painful muscle cramps including those in the abdominal region may be a clue for the early diagnosis of HMSN-P. Painful abdominal cramps have not described in related diseases, e.g., ALS, spinal muscular atrophy, and Charcot-Marie-Tooth disease. Recent patient-welfare improvements and advances in assistive devices including robot-suit assistive limbs are delaying the terminal state of HMSN-P. Regarding specific therapies for HMSN-P, many patients choose both nucleic acid medicine and the application of induced pluripotent stem cells as a specific therapy for HMSN-P.

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A wide spectrum of Hereditary Motor Sensory Neuropathy (HMSN)

Cited by 5 publications

References 7 publications

Prevalence and Incidence of Amyotrophic Lateral Sclerosis in Japan

Prevalence and Incidence of Amyotrophic Lateral Sclerosis in Japan

The TRK-Fused Gene Is Mutated in Hereditary Motor and Sensory Neuropathy with Proximal Dominant Involvement

Re-survey of 16 Japanese patients with advanced-stage hereditary motor sensory neuropathy with proximal dominant involvement (HMSN-P): Painful muscle cramps for early diagnosis

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