The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V
| العنوان: | The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V |
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| المؤلفون: | 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 |
| المصدر: | Brain |
| بيانات النشر: | Oxford University Press (OUP), 2004. |
| سنة النشر: | 2004 |
| مصطلحات موضوعية: | 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 |
| الوصف: | 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. |
| تدمد: | 1460-2156 0006-8950 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e5d903fcfbe019ecee37090c8ea6959Test https://doi.org/10.1093/brain/awh232Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....1e5d903fcfbe019ecee37090c8ea6959 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 14602156 00068950 |
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