Genetic disorder | Basic process | Other features | Other systems involved |
CMT type 1 | Demyelinating | Hypertrophic change with onion bulbs; severe slowing of conduction velocity in both the motor and sensory nerves | -- |
CMT type 2 | Axonal | Normal or mildly reduced nerve conduction velocity with decreased amplitude | -- |
Hereditary amyloid polyneuropathies | Axonal | Small-fiber involvement; endoneurial amyloid deposition | In some families: cornea, kidneys, heart |
Hereditary sensory neuropathy type I | Neuronopathic | Dorsal root ganglia neurons selectively involved | Sensorineural deafness (some families) |
Porphyric neuropathy | Axonal | Neuropathy part of attacks; may be recurrent | Widespread cellular abnormality |
Hereditary liability to pressure palsy | Demyelinating | Tomaculous changes in myelin | -- |
Fabry disease | Neuronopathic | Sensory neuropathy, small dorsal root ganglia neurons | Kidney, skin, lung |
CMT 1, X-linked | Demyelinating | Heterozygote females have symptoms | -- |
Adrenomyeloneuropathy | ?Axonal | Mild neuropathy, spastic paraparesis, baldness, hypogonadism | Adrenal cortex, cerebral white matter, spinal cord |
Hereditary sensory neuropathy type II | Neuronopathic | Dorsal root ganglia neurons selectively involved | -- |
Déjérine-Sottas syndrome | Demyelinating | Hypertrophic change with onion bulb formation | May be mentally retarded |
CMT type 4A | Demyelinating | Hypomyelination | -- |
Refsum disease | Demyelinating | Hypertrophic change with onion bulb formation | Retinitis pigmentosa, ichthyosis, sensorineural deafness |
Ataxia-telangiectasia | Axonal | Neuropathy moderate | Cell nuclear aneuploidy, skin and scleral telangiectasia, cerebellar atrophy, immunopathy |
Abetalipoproteinemia | Neuronopathic | Large dorsal root ganglia neurons | Retinitis pigmentosa, acanthocytosis of red blood cells |
Giant axonal neuropathy | Axonal | Massive segmented accumulation of neurofilaments in axons | Slowly progressive encephalopathy with Rosenthal fibers |
Metachromatic leukodystrophy | Demyelinating | Schwannopathy with cerebroside accumulation | Cerebral white matter disease predominates |
Friedrich ataxia | Axonal | Spinocerebellar and corticospinal tracts involved; also primary sensory neurons | Cardiomyopathy (usual cause of death) |
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