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Autosomal dominant juvenile amyotrophic lateral sclerosis and distal hereditary motor neuronopathy with pyramidal tract signs: synonyms for the same disorder?
| Content Provider | Semantic Scholar |
|---|---|
| Author | Jonghe, Peter De Auer-Grumbach, Michaela Irobi, Joy Wagner, Klaus Plecko, Barbara R. Kennerson, Marina L. Zhu, Danqing Vriendt, Els De Gerwen, Veerle Van Nicholson, G. E. Hartung, H. -J. Timmerman, Vincent |
| Copyright Year | 2002 |
| Abstract | 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. |
| Starting Page | 9331 |
| Ending Page | 9338 |
| Page Count | 8 |
| File Format | PDF HTM / HTML |
| Alternate Webpage(s) | https://oup.silverchair-cdn.com/oup/backfile/Content_public/Journal/brain/125/6/10.1093_brain_awf127/1/1251320.pdf?Expires=1498287051&Key-Pair-Id=APKAIUCZBIA4LVPAVW3Q&Signature=QkpEipXUKnNQE6eghHNfAjuUbG8r2Wd1JdAaZ1f47mKj55CoZF57za9GPFVQpbO0644xQZAtuszSb7nzvASnIrQAvuyMyW~dQsWuQ3IyDk2KJ1rTmR~z6szZE~B9ji25WhPD5xAiTcVmqleslvStQYKBlAHWb4cRiEbQgww5jFStZReest~ksj8jalvjnIfDEgJSBzOmWzaB2ohR6CBHKbCCL6afy7Ydfbq0V3V0p-rDO4AXM8zHXr6-DOM1sXDoLqFxD8oLeVQ9BzMs0gynk233tEtivlB4nsSazRaB0msYRcM~AmlnvBc9OXN3F3VKoMIzgt3HlvHvyCzJSOkHVQ__ |
| PubMed reference number | 12023320v1 |
| Volume Number | 125 |
| Part | 6 |
| Journal | Brain : a journal of neurology |
| Language | English |
| Access Restriction | Open |
| Subject Keyword | 9q34 Abnormal pyramidal signs Amyotrophic Lateral Sclerosis 4, Juvenile Atrophic Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) Autosomal dominant inheritance Charcot-Marie-Tooth Disease Friedreich Ataxia HMN (Hereditary Motor Neuropathy) Proximal Type I Hereditary Diseases Hyper-Immunoglobulin E Syndrome, Autosomal Dominant Menopause Mood Disorders Muscle Neurons Odontogenic Tissue Pyramidal Tracts Rare Diseases SETX wt Allele Spinal Muscular Atrophy Tuberous Sclerosis anatomical bulb genetic linkage mapped |
| Content Type | Text |
| Resource Type | Article |
