Hereditary motor and sensory neuropathy with proximal dominancy in the lower extremities, urinary disturbance, and paroxysmal dry cough

Miura, Shiroh; Shibata, Hiroki; Kida, Hiroshi; Noda, Kanji; Tomiyasu, Katsuro; Yamamoto, Ken; Iwaki, Akiko; Ayabe, Mitsuyoshi; Aizawa, Hisamichi; Taniwaki, Takayuki; Fukumaki, Yasuyuki

doi:10.1016/j.jns.2008.06.027

Cited by 25 publications

(10 citation statements)

References 8 publications

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“…Its description emphasizes proximal dominant muscle weakness and atrophy, and also includes mild but obvious sensory dysfunction, fasciculation, decreased deep tendon reflexes, axonal degeneration in the peripheral nerves, and autosomal dominant inheritance. The disease appeared to be rare, and was originally reported only in patients of Japanese or Korean descent (Takashima et al, 1997;Takashima et al, 1999;Takahashi et al, 2007;Miura et al, 2008;Patroclo et al, 2009;Ishiura et al, 2012;Campellone, 2013;Lee et al, 2013). In 2015, we described a large Iranian HMSN-P affected pedigree and thus showed that the disease is not confined to individuals with Far East ancestry (Alavi et al, 2015).…”

Section: Introductionmentioning

confidence: 66%

“…A detailed comparison of phenotypic features of earlier described HMSN-P patients, all with the same p.Pro285Leu mutation in TFG, emphasized notable clinical variability within the framework of the original description of the disease (Takashima et al, 1997;Alavi et al, 2015 ). Some of the variable features were age at onset (from early 20's to late 60's), rate of disease progression, temporal order of upper and lower limb involvement, proximal only/ proximal and distal muscle weakness, and symmetric/ asymmetric onset (Maeda et al, 2007;Takahashi et al, 2007;Miura et al, 2008;Patroclo et al, 2009;Ishiura et al, 2012;Lee et al, 2013;Maeda, 2013;Alavi et al, 2015).…”

Section: Discussionmentioning

confidence: 99%

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Identification of novel TFG mutation in HMSN-P pedigree: Emphasis on variable clinical presentations

Khani

Shamshiri

Alavi

et al. 2016

Journal of the Neurological Sciences

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We aimed to identify the genetic cause of neurological disease in an Iranian pedigree whose manifestations suggested hereditary motor and sensory neuropathy with proximal predominance (HMSN-P). Identification of a p.Gly269Val mutation in TFG, the known HMSN-P causative gene, provided supportive evidence. Subjective, biochemical, electrodiagnostic, and imaging data were compared with previously reported HMSN-P patients, including patients of an earlier described Iranian pedigree. Although notable clinical variability was found, comparable involvement of proximal and distal muscles was observed in both Iranian pedigrees. Interestingly, the same p.Gly269Val mutation was recently reported as cause of Charcot-Marie-Tooth disease type 2 in a Taiwanese pedigree. The likelihood that the two pedigrees with the p.Gly269Val mutation are not affected with different diseases is discussed. Identification of a second Iranian HMSN-P pedigree further confirms that HMSN-P is not confined to the Far East. Furthermore, p.Pro285Leu that has been the only TFG mutation thus far reported in HMSN-P patients is not the only mutation that can cause the disease. It is emphasized HMSN-P is a neuronopathy.

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Section: Introductionmentioning

confidence: 66%

Section: Discussionmentioning

confidence: 99%

Identification of novel TFG mutation in HMSN-P pedigree: Emphasis on variable clinical presentations

Khani

Shamshiri

Alavi

et al. 2016

Journal of the Neurological Sciences

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“…4 Miura et al studied a four-generation Japanese pedigree with hereditary motor and sensory neuropathy (proximal dominant form), and all affected members showed urinary dysfunction. 76 …”

Section: Hiv-associated Neuropathymentioning

confidence: 99%

Bladder dysfunction in peripheral neuropathies

et al. 2011

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Normal bladder function depends on the complex interaction of sensory and motor pathways. Bladder dysfunction can develop as a result of several neurological conditions. It can happen in a number of ways, including diabetic cystopathy, detrusor overactivity, bladder outlet obstruction, and urge and stress urinary incontinence. Diabetic neuropathy is the most common cause of peripheral neuropathy-associated bladder dysfunction. Guillain-Barré syndrome (GBS), human immunodeficiency virus (HIV)-associated neuropathy, chronic inflammatory demyelinating polyneuropathy (CIDP), and amyloid neuropathy are other major causes. The diagnosis of bladder dysfunction should be established by the history of neurological symptoms, neurological examination, and urological evaluation. Functional evaluation of the lower urinary tract includes cystometry, sphincter electromyography, uroflowmetry, and urethral pressure profilometry. Management of urinary symptoms in patients with bladder dysfunction is usually supportive. In some cases, alpha-blocker and/or anti-muscarinic agents are needed to help improve urinary dysfunction. Intermittent self-catheterization is needed occasionally for patients with slow and/or poor recovery.

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“…Hereditary motor and sensory neuropathy rarely shows proximal dominant muscle weakness and atrophy, with only a few reports that described this observation available in the literature [5][6][7][8][9]. Twenty-three patients in 8 families in the Okinawa prefecture, Japan, were reported to show hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) [5].…”

Section: Discussionmentioning

confidence: 99%

Hereditary sensory ataxic neuropathy associated with proximal muscle weakness in the lower extremities

Murakami

Fukai

Rikimaru

et al. 2010

Journal of the Neurological Sciences

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Hereditary motor and sensory neuropathy with proximal dominancy in the lower extremities, urinary disturbance, and paroxysmal dry cough

Cited by 25 publications

References 8 publications

Identification of novel TFG mutation in HMSN-P pedigree: Emphasis on variable clinical presentations

Identification of novel TFG mutation in HMSN-P pedigree: Emphasis on variable clinical presentations

Bladder dysfunction in peripheral neuropathies

Hereditary sensory ataxic neuropathy associated with proximal muscle weakness in the lower extremities

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