Brain, Vol. 125, No. 6, 1320-1325,
June 2002
© 2002 Guarantors of Brain
Autosomal dominant juvenile amyotrophic lateral sclerosis and distal hereditary motor neuronopathy with pyramidal tract signs: synonyms for the same disorder?
1 Molecular Genetics Department, Flanders Interuniversity Institute for Biotechnology (VIB), Born-Bunge Foundation (BBS), University of Antwerp (UIA), 2 Division of Neurology, University Hospital Antwerpen (UZA), Antwerpen, Belgium, 3 Department of Neurology, 4 Institute of Medical Biology and Human Genetics and 5 Department of Paediatrics, Karl-Franzens University Graz, Austria, 6 Department of Neurology, Heinrich-Heine University, Düsseldorf, Germany and 7 Molecular Medicine and Neurobiology Laboratories, ANZAC Medical Research Institute, University of Sydney, Concord Hospital NSW, Australia
Correspondence to: Dr P. De Jonghe MD, Peripheral Neuropathy Group, Molecular Genetics Laboratory, University of Antwerp, Universiteitsplein 1, B-2610 Antwerpen, Belgium E-mail: peter.dejonghe{at}ua.ac.be
Autosomal dominant juvenile amyotrophic lateral sclerosis (ALS) is a rare disorder and so far only one family has been reported. Genetic linkage studies mapped the disease locus to chromosome 9q34 (ALS4). The diagnosis of ALS in this family is based on the clinical signs with almost exclusively lower motor neurone pathology in combination with less prominent pyramidal tract signs. Atypical features include normal life expectancy, the absence of bulbar involvement and the symmetrical distal distribution of atrophy and weakness. We performed a molecular genetic study in three families that we had diagnosed as having distal hereditary motor neuronopathy, i.e. distal spinal muscular atrophy or spinal Charcot–Marie–Tooth syndrome, and found linkage to the ALS4 locus. The clinical phenotype in these three families, of different geographic origin (Austria, Belgium and England), is strikingly similar to the autosomal dominant juvenile ALS family except for a younger onset age in two of the distal hereditary motor neuronopathy families. These data suggest that ALS4 and distal hereditary motor neuronopathy with pyramidal tract signs may be one and the same disorder.
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