A clinical phenotype of distal hereditary motor neuronopathy type II with a novel HSPB1 mutation. 2009

Yoshihisa Ikeda, and Akiko Abe, and Chiho Ishida, and Kazuya Takahashi, and Kiyoshi Hayasaka, and Masahito Yamada
Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Science, Kanazawa, Japan. yoshi-i@med.kanazawa-u.ac.jp

We report a Japanese family with distal hereditary motor neuronopathy type II (distal HMN II) due to a novel K141Q mutation in heat-shock 27-kDa protein 1 gene (HSPB1/HSP27). A 47-year-old man (proband) with diabetes mellitus (DM) developed distal wasting and weakness of the legs and severe autonomic dysfunctions in his early forties, while his father and grandfather, without DM, demonstrated slowly progressive muscular wasting and weakness in all limbs still later in life. This mutation appears linked with the late-onset clinical phenotype as distal HMN II. Severe autonomic disturbances in the proband were probably due to uncontrolled DM, but may have been related to HSPB1 mutation.

UI MeSH Term Description Entries
D008297 Male Males
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D010375 Pedigree The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D010641 Phenotype The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. Phenotypes
D002607 Charcot-Marie-Tooth Disease A hereditary motor and sensory neuropathy transmitted most often as an autosomal dominant trait and characterized by progressive distal wasting and loss of reflexes in the muscles of the legs (and occasionally involving the arms). Onset is usually in the second to fourth decade of life. This condition has been divided into two subtypes, hereditary motor and sensory neuropathy (HMSN) types I and II. HMSN I is associated with abnormal nerve conduction velocities and nerve hypertrophy, features not seen in HMSN II. (Adams et al., Principles of Neurology, 6th ed, p1343) Atrophy, Muscular, Peroneal,HMSN Type I,HMSN Type II,Hereditary Motor and Sensory-Neuropathy Type II,Hereditary Motor, and Sensory Neuropathy Type I,Muscular Atrophy, Peroneal,Peroneal Muscular Atrophy,Roussy-Levy Syndrome,Charcot-Marie Disease,Charcot-Marie-Tooth Disease, Autosomal Dominant, With Focally Folded Myelin Sheaths, Type 1A,Charcot-Marie-Tooth Disease, Autosomal Dominant, with Focally Folded Myelin Sheaths, Type 1B,Charcot-Marie-Tooth Disease, Demyelinating, Type 1A,Charcot-Marie-Tooth Disease, Demyelinating, Type 1B,Charcot-Marie-Tooth Disease, Slow Nerve Conduction Type, Linked To Duffy,Charcot-Marie-Tooth Disease, Type 1A,Charcot-Marie-Tooth Disease, Type 1B,Charcot-Marie-Tooth Disease, Type I,Charcot-Marie-Tooth Disease, Type IA,Charcot-Marie-Tooth Disease, Type IB,Charcot-Marie-Tooth Disease, Type II,Charcot-Marie-Tooth Hereditary Neuropathy,Charcot-Marie-Tooth Neuropathy, Type 1A,Charcot-Marie-Tooth Neuropathy, Type 1B,Charcot-Marie-Tooth Syndrome,HMN Distal Type I,HMSN 1A,HMSN 1B,HMSN I,HMSN IA,HMSN IB,HMSN II,HMSN1A,HMSN1B,Hereditary Areflexic Dystasia,Hereditary Motor And Sensory Neuropathy IB,Hereditary Motor and Sensory Neuropathy 1A,Hereditary Motor and Sensory Neuropathy 1B,Hereditary Motor and Sensory Neuropathy IA,Hereditary Type I Motor and Sensory Neuropathy,Neuropathy, Type I Hereditary Motor and Sensory,Neuropathy, Type II Hereditary Motor and Sensory,Roussy Levy Hereditary Areflexic Dystasia,Roussy-Levy Disease,Roussy-Levy Hereditary Areflexic Dystasia,Areflexic Dystasia, Hereditary,Areflexic Dystasias, Hereditary,Atrophies, Peroneal Muscular,Atrophy, Peroneal Muscular,Charcot Marie Disease,Charcot Marie Tooth Disease,Charcot Marie Tooth Disease, Type 1A,Charcot Marie Tooth Disease, Type 1B,Charcot Marie Tooth Disease, Type I,Charcot Marie Tooth Disease, Type IA,Charcot Marie Tooth Disease, Type IB,Charcot Marie Tooth Disease, Type II,Charcot Marie Tooth Hereditary Neuropathy,Charcot Marie Tooth Neuropathy, Type 1A,Charcot Marie Tooth Neuropathy, Type 1B,Charcot Marie Tooth Syndrome,Dystasia, Hereditary Areflexic,Dystasias, Hereditary Areflexic,Hereditary Areflexic Dystasias,Hereditary Motor and Sensory Neuropathy Type II,Hereditary Neuropathy, Charcot-Marie-Tooth,Muscular Atrophies, Peroneal,Peroneal Muscular Atrophies,Roussy Levy Disease,Roussy Levy Syndrome,Syndrome, Charcot-Marie-Tooth,Syndrome, Roussy-Levy
D005192 Family Health The health status of the family as a unit including the impact of the health of one member of the family on the family as a unit and on individual family members; also, the impact of family organization or disorganization on the health status of its members. Health, Family
D006360 Heat-Shock Proteins Proteins which are synthesized in eukaryotic organisms and bacteria in response to hyperthermia and other environmental stresses. They increase thermal tolerance and perform functions essential to cell survival under these conditions. Stress Protein,Stress Proteins,Heat-Shock Protein,Heat Shock Protein,Heat Shock Proteins,Protein, Stress
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000368 Aged A person 65 years of age or older. For a person older than 79 years, AGED, 80 AND OVER is available. Elderly
D017354 Point Mutation A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair. Mutation, Point,Mutations, Point,Point Mutations

Related Publications

Yoshihisa Ikeda, and Akiko Abe, and Chiho Ishida, and Kazuya Takahashi, and Kiyoshi Hayasaka, and Masahito Yamada
December 2016, Neurology. Genetics,
Yoshihisa Ikeda, and Akiko Abe, and Chiho Ishida, and Kazuya Takahashi, and Kiyoshi Hayasaka, and Masahito Yamada
December 2023, Folia medica Cracoviensia,
Yoshihisa Ikeda, and Akiko Abe, and Chiho Ishida, and Kazuya Takahashi, and Kiyoshi Hayasaka, and Masahito Yamada
October 1999, Annals of the New York Academy of Sciences,
Yoshihisa Ikeda, and Akiko Abe, and Chiho Ishida, and Kazuya Takahashi, and Kiyoshi Hayasaka, and Masahito Yamada
October 1999, Annals of the New York Academy of Sciences,
Yoshihisa Ikeda, and Akiko Abe, and Chiho Ishida, and Kazuya Takahashi, and Kiyoshi Hayasaka, and Masahito Yamada
September 1999, Annals of the New York Academy of Sciences,
Yoshihisa Ikeda, and Akiko Abe, and Chiho Ishida, and Kazuya Takahashi, and Kiyoshi Hayasaka, and Masahito Yamada
September 1999, Annals of the New York Academy of Sciences,
Yoshihisa Ikeda, and Akiko Abe, and Chiho Ishida, and Kazuya Takahashi, and Kiyoshi Hayasaka, and Masahito Yamada
January 2024, Frontiers in pediatrics,
Yoshihisa Ikeda, and Akiko Abe, and Chiho Ishida, and Kazuya Takahashi, and Kiyoshi Hayasaka, and Masahito Yamada
February 2024, Journal of neurology,
Yoshihisa Ikeda, and Akiko Abe, and Chiho Ishida, and Kazuya Takahashi, and Kiyoshi Hayasaka, and Masahito Yamada
October 1999, Annals of the New York Academy of Sciences,
Yoshihisa Ikeda, and Akiko Abe, and Chiho Ishida, and Kazuya Takahashi, and Kiyoshi Hayasaka, and Masahito Yamada
September 1999, Annals of the New York Academy of Sciences,
Copied contents to your clipboard!