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Hereditary spastic paraplegia and prominent sensorial involvement: think MAG mutations!
- Source :
- Annals of Clinical and Translational Neurology, Annals of Clinical and Translational Neurology, Wiley, 2019, ⟨10.1002/acn3.50860⟩, Annals of Clinical and Translational Neurology, Vol 6, Iss 8, Pp 1572-1577 (2019), Annals of Clinical and Translational Neurology, 2019, ⟨10.1002/acn3.50860⟩
- Publication Year :
- 2019
- Publisher :
- HAL CCSD, 2019.
-
Abstract
- Homozygous mutations in MAG, encoding the myelin‐associated glycoprotein, a transmembrane component of the myelin sheath, have been associated with SPG 75 recessive spastic paraplegia. Here, we report the first patient with two compound heterozygous novel MAG mutations (p.A151V and p.S373R) and early developmental delay with a progressive complex phenotype characterized by spastic paraplegia, peripheral sensorimotor neuropathy, intellectual disability, and sensorial dysfunctions with severe optic atrophy and hearing involvement. Brain imaging showed progressive global cerebellar atrophy. We propose that complex hereditary spastic paraplegia, with axonal and demyelinating polyneuropathy, sensorial impairment and intellectual disability might suggest MAG mutations.
- Subjects :
- 0301 basic medicine
Pathology
medicine.medical_specialty
Hereditary spastic paraplegia
[SDV]Life Sciences [q-bio]
Neurosciences. Biological psychiatry. Neuropsychiatry
Brief Communication
medicine.disease_cause
Compound heterozygosity
03 medical and health sciences
0302 clinical medicine
Atrophy
Intellectual disability
medicine
Spastic
Humans
Child
RC346-429
ComputingMilieux_MISCELLANEOUS
Paraplegia
Mutation
Spastic Paraplegia, Hereditary
business.industry
General Neuroscience
Brain
medicine.disease
Magnetic Resonance Imaging
Pedigree
nervous system diseases
[SDV] Life Sciences [q-bio]
Myelin-Associated Glycoprotein
Phenotype
030104 developmental biology
nervous system
Female
Cerebellar atrophy
Neurology (clinical)
Neurology. Diseases of the nervous system
Brief Communications
business
030217 neurology & neurosurgery
RC321-571
Subjects
Details
- Language :
- English
- ISSN :
- 23289503
- Database :
- OpenAIRE
- Journal :
- Annals of Clinical and Translational Neurology, Annals of Clinical and Translational Neurology, Wiley, 2019, ⟨10.1002/acn3.50860⟩, Annals of Clinical and Translational Neurology, Vol 6, Iss 8, Pp 1572-1577 (2019), Annals of Clinical and Translational Neurology, 2019, ⟨10.1002/acn3.50860⟩
- Accession number :
- edsair.doi.dedup.....68806d1a0a7898327d0ebd41ecbbb38e