Definition:A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.
Definition:An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SOD1 gene on chromosome 21. The most common type of familial ALS.
Definition:A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells.
Definition:A syndrome characterized by parkinsonism, hypoventilation, depression, and weight loss and that has_material_basis_in heterozygous mutation in the DCTN1 gene on chromosome 2p13.