Genetic conditions

Question 1

SOD1 gene

Answer 1

Familial ALS - 5-10% of all ALS

Question 2

L1CAM

Answer 2

X linked L1 syndrome - males with hydrocephalus, LL spasticity, adducted thumbs, aphasia, seizures, agenesis of corpus callosum

Question 3

Spastin in SPG5 gene

Answer 3

Hereditary spastic paraplegia HSP - Autosomal dominant. Progressive weakness and spasticity of LL due to degen. of corticospinal tracts

Question 4

hexoaminidase A in HEXA gene

Answer 4

Deficient in Tay Sachs disease - Autosomal recessive. Movement disorder and intellect/develop disability

Question 5

Kennedy syndrome

Answer 5

X linked disorder with progressive weakness and wasting of limb and bulbar muscles. Onset mid adult with assoc. infertility and gynaecomastia

Expanded CAG repeat on X chr

Question 6

Dystrophin conditions (2)

Answer 6

Duchenne’s muscular dystrophy - X linked recessive. Onset age 2-3, M>F. Proximal muscles then distal limb

Becker’s muscular dystrophy - slow weakness, loss of mobility ~50s

Question 7

HOCM mutation?

Answer 7

cardiac myosin binding protein C 50%

cardiac beta myosin heavy chain gene chr 14 next common