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GENATLAS PHENOTYPE

last update : 06-01-2016

Symbol	PLSJ2
Location	8p11.23
Name	primary lateral sclerosis, juvenile 2
Corresponding gene	ERLIN2
Main clinical features	degeneration of the upper motor neurons and the corticospinal and corticobulbar tracts progressive spastic paralysis of the lower extremities in infancy with subsequent involvement of the upper extremities and bulbar muscles neuropathologic findings showed selective involvement of the motor cortex with atrophy of pyramidal cells and degeneration of the lateral corticospinal tracts
Genetic determination	not applicable
Function/system disorder	neurology
Type	disease

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