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Peripheral nerve hyperexcitability with preterminal nerve and neuromuscular junction remodeling is a hallmark of Schwartz-Jampel syndrome
- Source :
- Neuromuscular Disorders, Neuromuscular Disorders, 2013, 23 (12), pp.998-1009. ⟨10.1016/j.nmd.2013.07.005⟩, Neuromuscular Disorders, Elsevier, 2013, 23 (12), pp.998-1009. ⟨10.1016/j.nmd.2013.07.005⟩
- Publication Year :
- 2013
- Publisher :
- HAL CCSD, 2013.
-
Abstract
- Schwartz-Jampel syndrome (SJS) is a recessive disorder with muscle hyperactivity that results from hypomorphic mutations in the perlecan gene, a basement membrane proteoglycan. Analyses done on a mouse model have suggested that SJS is a congenital form of distal peripheral nerve hyperexcitability resulting from synaptic acetylcholinesterase deficiency, nerve terminal instability with preterminal amyelination, and subtle peripheral nerve changes. We investigated one adult patient with SJS to study this statement in humans. Perlecan deficiency due to hypomorphic mutations was observed in the patient biological samples. Electroneuromyography showed normal nerve conduction, neuromuscular transmission, and compound nerve action potentials while multiple measures of peripheral nerve excitability along the nerve trunk did not detect changes. Needle electromyography detected complex repetitive discharges without any evidence for neuromuscular transmission failure. The study of muscle biopsies containing neuromuscular junctions showed well-formed post-synaptic element, synaptic acetylcholinesterase deficiency, denervation of synaptic gutters with reinnervation by terminal sprouting, and long nonmyelinated preterminal nerve segments. These data support the notion of peripheral nerve hyperexcitability in SJS, which would originate distally from synergistic actions of peripheral nerve and neuromuscular junction changes as a result of perlecan deficiency.
- Subjects :
- Adult
Male
Pathology
medicine.medical_specialty
Receptor, ErbB-3
Schwartz–Jampel syndrome
[SDV]Life Sciences [q-bio]
Neuromuscular transmission
Neural Conduction
Neuromuscular Junction
Perlecan
Biology
Osteochondrodysplasias
Neuromuscular junction
03 medical and health sciences
chemistry.chemical_compound
0302 clinical medicine
Neurofilament Proteins
medicine
Humans
Receptors, Cholinergic
Peripheral Nerves
Genetics (clinical)
ComputingMilieux_MISCELLANEOUS
030304 developmental biology
Denervation
0303 health sciences
Electromyography
Calcium-Binding Proteins
S100 Proteins
Electromyoneurography
Receptor Protein-Tyrosine Kinases
Myelin Basic Protein
Anatomy
medicine.disease
Acetylcholinesterase
medicine.anatomical_structure
Neurology
chemistry
Pediatrics, Perinatology and Child Health
biology.protein
[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]
Neurology (clinical)
030217 neurology & neurosurgery
Reinnervation
Subjects
Details
- Language :
- English
- ISSN :
- 09608966
- Database :
- OpenAIRE
- Journal :
- Neuromuscular Disorders, Neuromuscular Disorders, 2013, 23 (12), pp.998-1009. ⟨10.1016/j.nmd.2013.07.005⟩, Neuromuscular Disorders, Elsevier, 2013, 23 (12), pp.998-1009. ⟨10.1016/j.nmd.2013.07.005⟩
- Accession number :
- edsair.doi.dedup.....d510c8e801b8f46d62c4c242504f3022