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SMA Spinal cord Anterior roots are atrophic

ALS-SOD1 (A4V): Tongue atrophy

l Exon 1; Ala4Val Most common mutation Rapid onset & progression (1.0 yrs) Frequently only lower motor neuron signs

l Exon 2; His46Arg @ Cu binding site of SOD Onset: Late; Legs Bulbar unusual Slow progression (17 yrs)

l Exon 2; 6 bp deletion(G27/P28) 65 Mutation reduces transcription Low levels of mutant SOD1 protein Philipino founder Low penetrance Disease duration: 4.3 years

l Exon 4; Leu84Val Lower motor neuron only Rapid progression (1.5 yrs) ?Earlier onset in males

l Exon 4; Asp90Ala Onset: 20 to 94 yrs; Legs; Preparetic phase Leg cramps; Myalgia; Painful paresthesia Bladder dysfunction Progression: Slow; Legs Arms Inheritance Recessive: Finnish (2.5% carriers) Dominant: Clinically variable Incomplete penetrance

l Exon 4; Ile104Phe Variable intrafamilial clinical features Age of Onset: 6 yrs - asymptomatic Course: 2 to 14 yrs until bulbar signs Limb onset: arms or legs

l Exon 4; Ile113Thr Reported in Sporadic ALS patients Relatively common; Low penetrance Late Onset: Mean 59 years Course: Variable; 2 to 20 years

Originally posted here:
Hereditary Motor Syndromes - Neuromuscular Disease Center