Abstract
Seven patients with hereditary motor and sensory neuropathy associated with cerebellar atrophy (HMSNCA) are presented. This is the first comprehensive evaluation of what is a unique disorder, half way between the cerebellar atrophies and the hereditary motor and sensory neuropathies. In addition to cerebellar ataxia and peripheral neuropathy, the most frequent features in HMSNCA were nystagmus, dysarthria, mental impairment and tremor. Pyramidal signs or autonomic nerve dysfunction was never revealed. Scoliosis or kyphoscoliosis was not noted. Progression of the disorder was very slow, most of the patients being ambulatory more than 10 years after the onset. Most of the patients had hypoalbuminemia. Half-life periods of serum albumin were normal and decreased synthesis of albumin in the liver was suspected. An autosomal recessive inheritance was strongly suggested, because of healthy consanguineous parents and affected siblings in these families. The segregation ratio was 0.32 +/- 0.10 and was close to the expected ratio of 0.25 in an autosomal recessive inheritance.
References
Jan 1, 1978·Acta Neurologica Scandinavica. Supplementum·J C BrustS Devi
Apr 1, 1977·Journal of Neurology, Neurosurgery, and Psychiatry·F GoutièresE Farkas
Dec 1, 1989·Journal of Neurology, Neurosurgery, and Psychiatry·G De MicheleG Campanella
Oct 1, 1987·Journal of Neurology, Neurosurgery, and Psychiatry·K D MacDermot, R W Walker
Apr 1, 1974·Archives of Neurology·K Kondo, Y Horikawa
Oct 1, 1973·Archives of Neurology·W BermanC J Migeon
Nov 1, 1973·Archives of Neurology·J LapresleL Kremlin-Bicêtre
Jan 1, 1982·Acta Neuropathologica·N FukuharaY Origuchi
Jan 1, 1981·Annals of the New York Academy of Sciences·D Claus, J C Aschoff
Jun 1, 1980·Brain : a Journal of Neurology·A E Harding, P K Thomas
Aug 1, 1980·Journal of Neurology, Neurosurgery, and Psychiatry·A E Harding, P K Thomas
Oct 1, 1993·Human Molecular Genetics·K Ben OthmaneJ M Vance
Jan 1, 1994·Journal of Neurology, Neurosurgery, and Psychiatry·I E OrmerodW I McDonald
Citations
Dec 25, 2012·Journal of Neurology·Shigehiro NagaiKentaro Matsuoka
May 7, 2005·Pediatric Neurology·Aya ItoMariko Y Momoi
Jul 17, 1998·Journal of the Neurological Sciences·Y SekijimaN Yanagisawa
Jan 6, 2000·Clinical Neurology and Neurosurgery·H J SchelhaasG Hageman
May 24, 2007·Nucleic Acids Research·Tetsuya TakahashiOsamu Onodera
Sep 12, 2006·Neuropathology : Official Journal of the Japanese Society of Neuropathology·Osamu Onodera
Sep 1, 2005·Current Neurology and Neuroscience Reports·Isabelle Le BerAlexandra Dürr
Apr 6, 2011·Neurogenetics·Barbara CastellottiCinzia Gellera
Mar 22, 2000·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·E BertiniP Tonali
Nov 24, 2004·Biochemical and Biophysical Research Communications·Hidetoshi DateOsamu Onodera
Feb 15, 2001·American Journal of Human Genetics·M C MoreiraM Koenig
Jun 19, 2007·Journal of the Neurological Sciences·Moreno FerrariniGian Maria Fabrizi
Jan 30, 2007·Journal of the Neurological Sciences·Shunsuke KobayashiIchiro Kanazawa
Oct 10, 2003·Movement Disorders : Official Journal of the Movement Disorder Society·Yoshiki SekijimaShu-ichi Ikeda
Feb 3, 2004·Annals of Neurology·Yasuteru SanoShoji Tsuji
Oct 5, 2001·Nature Genetics·H DateS Tsuji
Oct 5, 2001·Nature Genetics·M C MoreiraM Koenig
Oct 6, 2007·European Neurology·Masashiro SugawaraItaru Toyoshima
Aug 5, 2020·PloS One·Nidaa A AbabnehAbdalla Awidi