The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V
| Autor: | Veerle Van Gerwen, Vincent Timmerman, Klaus Wagner, Luciano Merlini, Christian Windpassinger, Christine Verellen, Albena Jordanova, Peter Van den Bergh, Ines Dierick, Michaela Auer-Grumbach, Nathalie Verpoorten, Lionel Van Maldergem, Els De Vriendt, Joy Irobi, Peter De Jonghe |
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| Rok vydání: | 2004 |
| Předmět: |
Adult
Pathology medicine.medical_specialty Adolescent BSCL2 Russell-Silver Syndrome Biology Seipin Genetic Heterogeneity Distal amyotrophy GTP-Binding Protein gamma Subunits medicine Humans Spasticity Child Leg Muscle Weakness Spastic Paraplegia Hereditary Genetic heterogeneity Muscle weakness Syndrome Middle Aged Hand Amyotrophy medicine.disease Pedigree Muscular Atrophy Phenotype Muscle Spasticity Mutation Neurology (clinical) medicine.symptom Hereditary Sensory and Motor Neuropathy |
| Zdroj: | Brain |
| ISSN: | 1460-2156 0006-8950 |
| DOI: | 10.1093/brain/awh232 |
| Popis: | Silver syndrome is a rare autosomal dominant neurodegenerative disorder characterized by marked amyotrophy and weakness of small hand muscles and spasticity in the lower limbs. The locus for Silver syndrome (SPG17) was assigned to a 13 cM region on chromosome 11q12-q14 in a single large pedigree. We recently found heterozygous mutations in the Berardinelli-Seip congenital lipodystrophy (BSCL2, seipin) gene causing SPG17 and distal hereditary motor neuropathy type V (distal HMN V). Here we report the clinical features of two families with heterozygous BSCL2 mutations. Interestingly, both families show a clinical phenotype different from classical Silver syndrome, and in some patients the phenotype is also different from distal HMN V. Patients in the first family had marked spasticity in the lower limbs and very striking distal amyotrophy that always started in the legs. Patients in the second family had distal amyotrophy sometimes starting and predominating in the legs, but no pyramidal tract signs. These observations broaden the clinical phenotype of disorders associated with BSCL2 mutations, having consequences for molecular genetic testing. |
| Databáze: | OpenAIRE |
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