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• W2485865669 abstract "Disease characteristics. ALS2-related disorders involve retrograde degeneration of the upper motor neurons of the pyramidal tracts and comprise a clinical continuum from infantile ascending hereditary spastic paraplegia (IAHSP) to juvenile forms without lower motor neuron involvement (juvenile primary lateral sclerosis or JPLS) to forms with lower motor neuron involvement (autosomal recessive juvenile amyotrophic lateral sclerosis or JALS). IAHSP is characterized by onset of spasticity with increased reflexes and sustained clonus of the lower limbs within the first two years of life, progressive weakness and spasticity of the upper limbs by age seven to eight years, and wheelchair dependence in the second decade with progression toward severe spastic tetraparesis and a pseudobulbar syndrome. JPLS is characterized by onset and loss of ability to walk during the second year of life, progressive signs of upper motor neuron disease, wheelchair dependence by adolescence, and later loss of motor speech production. JALS is characterized by onset during childhood (mean age of onset is 6.5 years), spasticity of facial muscles, uncontrolled laughter, spastic dysarthria, spastic gait, inconstant moderate muscle atrophy, bladder dysfunction, and sensory disturbances; some individuals are bedridden by age 12 to 50 years. Diagnosis/testing. Results of electrophysiologic studies in ALS2-related disorders vary by phenotype; MRI shows brain changes in older individuals with IAHSP. Mutations in the ALS2 gene have been found in four of 11 families with IAHSP; other genes/loci have not been identified. Molecular genetic testing of ALS2 (KIAA1563), the only gene known to be associated with these disorders, detects mutations in all individuals with ALS2-related disorders and is available on a clinical basis." @default.
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• W2485865669 date "2005-01-01" @default.
• W2485865669 modified "2023-10-18" @default.
• W2485865669 title "(Includes: Autosomal Recessive Juvenile Amyotrophic Lateral Sclerosis, Infantile-Onset Ascending Hereditary Spastic Paralysis, Juvenile Primary Lateral Sclerosis)" @default.
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