Basic Neurogenetics: Genes & Inheritance Patterns Flashcards
Inheritance of HD
AD
Trinucleotide repeat in HD
CAG
3 major features of HD
Psych, Movement, Cognitive
How many CAG repeats for full mutation in HD
40 or more
How many CAG repeats for a reduced penetrance mutation in HD
36-39
Anticipation in HD is more likely if passed through mom or dad?
Dad
Is genetic testing of minors recommended for HD?
No
Should prenatal testing for HD be performed on fetus if parents have no plans to end the pregnancy if positive?
No
Characteristic pathology in brain of person with AD
Amyloid plaques and neurofibrillary tangles
What is the biggest risk factor for AD?
Increasing age
What is the inheritance of early-onset AD?
AD
What 3 genes are implicated in autosomal dominant AD?
APP, PSEN1, PSEN2
What is a genetic risk factor for AD?
APOE4
APOE4 is associated with an increased risk for
Alzheimer’s disease and cardiovascular disease
Is APOE predictive testing currently recommended?
No
Characteristic brain pathology in a person with Parkinson’s disease
Lewy bodies
4 main features of Parkinson’s disease
Tremor, rigidity, bradykinesia, postural instability
3 genes in AR Parkinson’s disease
PARK2, PINK1, DJ-1
3 main genes in AD Parkinson’s disease
SNCA, LRRK2, GBA
Inheritance of FTD
AD
3 genes associated with FTD
C9orf72, MAPT, GRN
Mutation in C9orf72
GGGGCC; > 30 repeats
3 main genes associated with ALS
SOD1, FUS, C9orf72
Inheritance of DMD/BMD
XLR
Gene of DMD/BMD
DMD
Out-of-frame deletions in DMD are seen in ____ and in-frame deletions in DMD are seen in ______.
DMD; BMD
What is the progression of muscle weakness in DMD/BMD
Proximal to Distal
Other than muscle weakness and wasting, what is another common feature in DMD/BMD
Cardiomyopathy
How do you do testing for BMD/DMD
First: test for exotic deletion; Second: full dystrophin gene sequencing