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Results 1 - 10 of 14 for Primary lateral sclerosis
  1. Juvenile primary lateral sclerosis 
    Juvenile primary lateral sclerosis is a rare disorder characterized by progressive weakness and tightness (spasticity) of muscles in the arms, legs, and face. ...
    https://medlineplus.gov/.../juvenile-primary-lateral-sclerosis - Genetics
  2. ALS2 gene 
    ... mutations in the ALS2 gene that cause juvenile primary lateral sclerosis, which is characterized by progressive weakness and stiffness ... the loss of functional alsin protein causes juvenile primary lateral sclerosis. Loss of alsin may result in a disruption ...
    https://medlineplus.gov/genetics/gene/als2 - Genetics
  3. Riboflavin transporter deficiency neuronopathy 
    ... reveals riboflavin transporter mutations as a cause of motor neuron disease. Brain. 2012 Sep;135(Pt 9):2875-82. ...
    https://medlineplus.gov/...lavin-transporter-deficiency-neuronopathy - Genetics
  4. Amyotrophic lateral sclerosis 
    ... Dementia with amyotrophic lateral sclerosis Lou Gehrig disease Motor neuron disease, amyotrophic lateral sclerosis Genetic Testing Registry: Amyotrophic lateral ...
    https://medlineplus.gov/.../condition/amyotrophic-lateral-sclerosis - Genetics
  5. Infantile-onset ascending hereditary spastic paralysis 
    ... affected in this condition.A condition called juvenile primary lateral sclerosis shares many of the features of infantile-onset ...
    https://medlineplus.gov/...et-ascending-hereditary-spastic-paralysis - Genetics
  6. DCTN1 gene 
    ... GG, Puls I, Fischbeck KH, Holzbaur EL. A motor neuron disease-associated mutation in p150Glued perturbs dynactin function and ... Jr, Ludlow CL, Fischbeck KH. Mutant dynactin in motor neuron disease. Nat Genet. 2003 Apr;33(4):455-6. ...
    https://medlineplus.gov/genetics/gene/dctn1 - Genetics
  7. Spinal muscular atrophy 
    ... Other forms of spinal muscular atrophy and related motor neuron diseases, such as spinal muscular atrophy with progressive myoclonic ...
    https://medlineplus.gov/genetics/condition/spinal-muscular-atrophy - Genetics
  8. Autosomal recessive cerebellar ataxia type 1 
    ... Kawakami H. Cerebellar ataxia with SYNE1 mutation accompanying motor neuron disease. Neurology. 2013 Feb 5;80(6):600-1. ...
    https://medlineplus.gov/...osomal-recessive-cerebellar-ataxia-type-1 - Genetics
  9. Spastic paraplegia type 49 
    ... of TECPR2 in a complex form of progressive motor neuron disease. Clin Genet. 2016 Aug;90(2):182-5. ...
    https://medlineplus.gov/.../condition/spastic-paraplegia-type-49 - Genetics
  10. Sandhoff disease 
    ... of juvenile-onset Sandhoff disease presenting with a motor neuron disease phenotype and a novel variant. Brain Dev. 2021 ...
    https://medlineplus.gov/genetics/condition/sandhoff-disease - Genetics
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