Genetic Neurological Diseases Flashcards
Mutation in what gene causes duchennes muscular dystrophy and is there more or less protein?
Dystrophin
There is deficiency
What are the 4 tests you can do for Duchennes?
Raised serum CK
Electromyography
Muscle biopsy
Molecular genetic testing
What is a differential in Duchennes?
Autosomal recessive limb girdle dystrophies (sarcoglycan deficiency)
What comes first in Huntingtons, movement problems or behavioural signs?
Behavioural signs
What is found on pathological investigation of Huntingtons?
Caudate nucleus atrophy (big lateral ventricles)
What is the triplet repeat in huntingtons and what amino acid does it code for?
CAG
Glutamine
What is the pathology in spinal muscular atrophy?
Progressive loss of anterior horn cells in spinal cord and brain stem nuclei
What are the symptoms of spinal muscular atrophy?
Hypotonia
Proximal muscle weakness
Tongue fasciculation
What is the mode of inheritance of spinal muscular atrophy?
Autosomal recessive
When does spinal muscular atrophy start?
Trick question!
Variable
What is the gene that is mutated in spinal muscular atrophy and is there excess or deficiency?
SMN1
Deficiency
What is a potential for treatment of spinal muscular atrophy?
Adding an exon to SMN2 so that it functions the same as SMN1
What percentage of cases of alzheimers are autosomal dominant and are they early or late onset?
5-10%
Early onset
What other genetic condition will cause early onset (3rd or 4th decade) alzheimers?
Down syndrome
What are the possible mutations in autosomal dominant alzheimers?
ApoE (some variants are protective)
APP mutations
Presenilin 1
Presenilin 2