Matches in SemOpenAlex for { <https://semopenalex.org/work/W2322768159> ?p ?o ?g. }
Showing items 1 to 90 of
90
with 100 items per page.
- W2322768159 abstract "Seipinopathies are a group of inherited diseases affecting upper and lower motor neurons due to mutations in the BSCL2 gene. Phenotype spectrum includes Silver syndrome, a form of hereditary spastic paraplegia (SPG17) and distal hereditary motor neuropathy type V. We report a French family carrying the N88S mutation in the BSCL2 gene. A 12-y-o girl complained of bilateral asymmetrical pes cavus. Physical exam revealed right hand motor deficit and amyotrophy. She also had asymmetrical leg amyotrophy and pyramidal signs. The electrophysiological exam showed axonal multifocal motor neuropathy with a distal predominance. Motor evoked potentials confirmed bilateral upper neuron impairment. At the age of 17, she was examined together with her father. He was a 46-y-o patient complaining of a rest tremor of the right hand associated with hand weakness. He had also noticed some wasting of the left hand muscles. His main history was a traumatism of the right peroneal tendon at the age of 6, later surgically treated by right ankle arthrodesis. Physical exam revealed left leg, hand and forearm amyotrophy. It was associated with akinesia and right arm rigidity. Reflexes were brisk at the lower limbs and bilateral Babinski sign was found. The EDX exam showed distal axonal multineuropathy with slight sensitive impairment. There was a moderate reduction of nerve conduction velocity in some nerves. l -Dopa was introduced, improving the Parkinson signs. Genetic testing revealed the presence of the N88S mutation in the BSCL2 gene in the proband and her father. BSCL2 mutations are associated with a wide clinical and electrophysiological spectrum and should be evoked in case of dHMN with pyramidal signs or early hand involvement. Mild demyelinating process could be associated and severity can be variable within the same family. Clinical diagnosis were made more difficult here due to the association with Parkinson symptoms, supposedly not linked to the BSCL2 gene mutation." @default.
- W2322768159 created "2016-06-24" @default.
- W2322768159 creator A5050704861 @default.
- W2322768159 creator A5055404418 @default.
- W2322768159 creator A5065691527 @default.
- W2322768159 creator A5070195480 @default.
- W2322768159 creator A5071498386 @default.
- W2322768159 creator A5081333136 @default.
- W2322768159 creator A5083225834 @default.
- W2322768159 date "2013-10-01" @default.
- W2322768159 modified "2023-09-22" @default.
- W2322768159 title "P.6.10 Phenotypic variability in a French family presenting with seipinopathy" @default.
- W2322768159 doi "https://doi.org/10.1016/j.nmd.2013.06.481" @default.
- W2322768159 hasPublicationYear "2013" @default.
- W2322768159 type Work @default.
- W2322768159 sameAs 2322768159 @default.
- W2322768159 citedByCount "0" @default.
- W2322768159 crossrefType "journal-article" @default.
- W2322768159 hasAuthorship W2322768159A5050704861 @default.
- W2322768159 hasAuthorship W2322768159A5055404418 @default.
- W2322768159 hasAuthorship W2322768159A5065691527 @default.
- W2322768159 hasAuthorship W2322768159A5070195480 @default.
- W2322768159 hasAuthorship W2322768159A5071498386 @default.
- W2322768159 hasAuthorship W2322768159A5081333136 @default.
- W2322768159 hasAuthorship W2322768159A5083225834 @default.
- W2322768159 hasConcept C104317684 @default.
- W2322768159 hasConcept C105702510 @default.
- W2322768159 hasConcept C126322002 @default.
- W2322768159 hasConcept C141071460 @default.
- W2322768159 hasConcept C185592680 @default.
- W2322768159 hasConcept C188997412 @default.
- W2322768159 hasConcept C2776752467 @default.
- W2322768159 hasConcept C2777373429 @default.
- W2322768159 hasConcept C2777938335 @default.
- W2322768159 hasConcept C2778117643 @default.
- W2322768159 hasConcept C2779134260 @default.
- W2322768159 hasConcept C2779155698 @default.
- W2322768159 hasConcept C2780168130 @default.
- W2322768159 hasConcept C2780247198 @default.
- W2322768159 hasConcept C2781172350 @default.
- W2322768159 hasConcept C501734568 @default.
- W2322768159 hasConcept C55493867 @default.
- W2322768159 hasConcept C71924100 @default.
- W2322768159 hasConcept C81182388 @default.
- W2322768159 hasConceptScore W2322768159C104317684 @default.
- W2322768159 hasConceptScore W2322768159C105702510 @default.
- W2322768159 hasConceptScore W2322768159C126322002 @default.
- W2322768159 hasConceptScore W2322768159C141071460 @default.
- W2322768159 hasConceptScore W2322768159C185592680 @default.
- W2322768159 hasConceptScore W2322768159C188997412 @default.
- W2322768159 hasConceptScore W2322768159C2776752467 @default.
- W2322768159 hasConceptScore W2322768159C2777373429 @default.
- W2322768159 hasConceptScore W2322768159C2777938335 @default.
- W2322768159 hasConceptScore W2322768159C2778117643 @default.
- W2322768159 hasConceptScore W2322768159C2779134260 @default.
- W2322768159 hasConceptScore W2322768159C2779155698 @default.
- W2322768159 hasConceptScore W2322768159C2780168130 @default.
- W2322768159 hasConceptScore W2322768159C2780247198 @default.
- W2322768159 hasConceptScore W2322768159C2781172350 @default.
- W2322768159 hasConceptScore W2322768159C501734568 @default.
- W2322768159 hasConceptScore W2322768159C55493867 @default.
- W2322768159 hasConceptScore W2322768159C71924100 @default.
- W2322768159 hasConceptScore W2322768159C81182388 @default.
- W2322768159 hasLocation W23227681591 @default.
- W2322768159 hasOpenAccess W2322768159 @default.
- W2322768159 hasPrimaryLocation W23227681591 @default.
- W2322768159 hasRelatedWork W1053817829 @default.
- W2322768159 hasRelatedWork W1969132473 @default.
- W2322768159 hasRelatedWork W1993077004 @default.
- W2322768159 hasRelatedWork W2022256832 @default.
- W2322768159 hasRelatedWork W2101968007 @default.
- W2322768159 hasRelatedWork W2327195116 @default.
- W2322768159 hasRelatedWork W2331949628 @default.
- W2322768159 hasRelatedWork W2336483889 @default.
- W2322768159 hasRelatedWork W2403109696 @default.
- W2322768159 hasRelatedWork W2406597295 @default.
- W2322768159 hasRelatedWork W2414349318 @default.
- W2322768159 hasRelatedWork W2414796987 @default.
- W2322768159 hasRelatedWork W2415660002 @default.
- W2322768159 hasRelatedWork W2420388994 @default.
- W2322768159 hasRelatedWork W2471288102 @default.
- W2322768159 hasRelatedWork W2939905627 @default.
- W2322768159 hasRelatedWork W3035157474 @default.
- W2322768159 hasRelatedWork W3128202413 @default.
- W2322768159 hasRelatedWork W2154194798 @default.
- W2322768159 hasRelatedWork W2461404815 @default.
- W2322768159 isParatext "false" @default.
- W2322768159 isRetracted "false" @default.
- W2322768159 magId "2322768159" @default.
- W2322768159 workType "article" @default.