A&V:39 Degenerative Diseases of the Nervous System Flashcards
1
Q
Who first described hereditary spastic paraplegia ?
A
Selligmuller, Strumpell and Lorrain
2
Q
Most common form of inheritance of HSP ?
A
AD > recessive > x-linked
3
Q
2 groups of HSP that harding identified
A
40 y/o progressive course of increasing spasticity + sensory loss (mild), urinary symptoms, action trmor
4
Q
Basic etiology of HSP ?
A
degeneration of corticospinal tracts, thinning of columns of Goll (gracile fasciculus) allowing hyperactive reflexes and spasticity
5
Q
Gene associated with 40-50% of HSP
A
spastin (HSP type 4) binds to microtubules
