Reference : Hereditary motor and sensory neuropathy with absence of large myelinated fibers due t...
Scientific journals : Article
Human health sciences : Pediatrics
Human health sciences : Neurology
http://hdl.handle.net/2268/168847
Hereditary motor and sensory neuropathy with absence of large myelinated fibers due to absence of large neurons in dorsal root ganglia and anterior horns, clinically associated with deafness, mental retardation, and epilepsy (HMSN-ADM).
English
Muller, H. D. [Rheinisch - Westfälische Technische Hochschule Aachen - RWTH > Neuropathology > > >]
Mugler, M. [Rheinisch - Westfälische Technische Hochschule Aachen - RWTH > Neuropathology > > >]
RAMAEKERS, Vincent mailto [Rheinisch - Westfälische Technische Hochschule Aachen - RWTH > Paediatric Neurology > > >]
Schroder, J. M. [Rheinisch - Westfälische Technische Hochschule Aachen - RWTH > Neuropathology > > >]
Sep-2000
Journal of the peripheral nervous system : JPNS
5
3
147-57
Yes (verified by ORBi)
International
1085-9489
United States
[en] Anterior Horn Cells/pathology ; Cerebellar Nuclei/pathology ; Child, Preschool ; Deafness/pathology ; Epilepsy/pathology ; Fatal Outcome ; Female ; Ganglia, Spinal/pathology ; Hereditary Sensory and Motor Neuropathy/pathology ; Humans ; Infant ; Intellectual Disability/pathology ; Motor Neurons/pathology ; Nerve Fibers, Myelinated/pathology ; Neurons, Afferent/pathology
[en] Hereditary motor and sensory neuropathy (HMSN) with autosomal recessive inheritance represents a genetically heterogeneous group of disorders with variable clinical, pathologic and electrophysiologic manifestations. A new variant of autosomal recessive HMSN, clinically defined by sensorimotor polyneuropathy associated with deafness and mental retardation, has recently been described. We report on the first autopsy case with this type of HMSN: a girl of non-consanguineous parents with a presumably autosomal recessive type of motor and sensory neuropathy clinically associated with deafness, mental retardation, and epilepsy. The autopsy showed complete absence of large myelinated fibers in peripheral motor and sensory nerves corresponding to a lack of large neurons in dorsal root ganglia and anterior horns of the spinal cord, moderate neurogenic muscle atrophy, and nearly complete absence of neurons in the dentate nucleus of the cerebellum. Molecular genetic analyses in our case revealed neither genetic alterations in the survival motor neuron gene nor in the PMP-22 gene.
http://hdl.handle.net/2268/168847
10.1046/j.1529-8027.2000.00020.x

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