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

Journal of the Neurological Sciences

Volumn 273, Issue 1-2, 2008, Pages 88-92

  Miura, Shiroh ^a   Shibata, Hiroki ^b   Kida, Hiroshi ^a   Noda, Kazuhito ^a   Tomiyasu, Katsuro ^c   Yamamoto, Ken ^d   Iwaki, Akiko ^b   Ayabe, Mitsuyoshi ^a   Aizawa, Hisamichi ^a   Taniwaki, Takayuki ^a   Fukumaki, Yasuyuki ^b  

^a Division of Respirology Neurology and Rheumatology   (Japan)

^b Research Center for Genetic Information   (Japan)

^c KURUME UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^d KYUSHU UNIVERSITY   (Japan)

Author keywords

Cough; Elevated creatine kinase level; Hereditary motor and sensory neuropathy; HMSN P; Neurogenic bladder; Proximal dominancy

Indexed keywords

CREATINE KINASE; PERIPHERAL MYELIN PROTEIN 22;

ADULT; AGED; AREFLEXIA; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; COUGHING; ELECTROPHYSIOLOGY; FEMALE; GENE DELETION; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GENETIC LINKAGE; HUMAN; LEG; MALE; MOTOR NEUROPATHY; MUSCLE CRAMP; MUSCLE WEAKNESS; PHENOTYPE; PRIORITY JOURNAL; SENSORY NEUROPATHY; TREMOR; URINARY TRACT OBSTRUCTION; URODYNAMICS;

ADULT; AGED; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 3; COUGH; FAMILY HEALTH; FEMALE; GENES, DOMINANT; GENETIC HETEROGENEITY; HEREDITARY MOTOR AND SENSORY NEUROPATHIES; HUMANS; JAPAN; LINKAGE (GENETICS); LOD SCORE; LOWER EXTREMITY; MALE; MIDDLE AGED; NEURAL CONDUCTION; URINATION DISORDERS;

EID: 50049116940     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2008.06.027     Document Type: Article

References (9)

1. Scherer S.S. Findings the causes of inherited neuropathies. Arch Neurol 63 (2006) 812-816
2. Takashima H., Nakagawa M., Nakahara K., Suehara M., Matsuzaki T., Higuchi I., et al. A new type of hereditary motor and sensory neuropathy linked to chromosome 3. Ann Neurol 41 (1997) 771-780
3. Takashima H., Nakagawa M., Suehara M., Saito M., Saito A., Kanzato N., et al. Gene for hereditary motor and sensory neuropathy (proximal dominant form) mapped to 3q13.1. Neuromuscul Disord 9 (1999) 368-371
4. Maeda K., Kaji R., Yasuno K., Jambaldorj J., Nodera H., Takashima H., et al. Refinement of a locus for autosomal dominant hereditary motor and sensory neuropathy with proximal dominancy (HMSN-P) and genetic heterogeneity. J Hum Genet 52 (2007) 907-914
5. Kok C., Kennerson M.L., Spring P.J., Ing A.J., Pollard J.D., and Nicholson G.A. A locus for hereditary sensory neuropathy with cough and gastroesophageal reflux on chromosome 3p22-p24. Am J Hum Genet 73 (2003) 632-637
6. Maeda K., Sugiura M., Kato H., Sanada M., Kawai H., and Yasuda H. Hereditary motor and sensory neuropathy (proximal dominant form, HMSN-P) among Brazilians of Japanese ancestry. Clin Neurol Neurosurg 109 (2007) 830-832
7. Takahashi M., Mitsui Y., Yorifuji S., Nakamura Y., Tsukamoto Y., and Nishimoto K. A clinical report of hereditary motor and sensory neuropathy with proximal dominance in Shiga prefecture. Clin Neurol (Tokyo) 47 (2007) 571-576
8. Spring P.J., Kok C., Nicholson G.A., Ing A.J., Spies J.M., Bassett M.L., et al. Autosomal dominant hereditary sensory neuropathy with chronic cough and gastro-oesophageal reflux: clinical features in two families linked to chromosome 3p22-p24. Brain 128 (2005) 2797-2810
9. Baloh R.H., Jen J.C., Kim G., and Baloh R.W. Chronic cough due to Thr124Met mutation in the peripheral myelin protein zero (MPZ gene). Neurology 62 (2004) 1905-1906