neurogenetics

Question 1

what genetic disorders is medulloblastoma associated with

Answer 1

Li-Fraumeni syndrome,
Gorlin syndrome, Turcot syndrome, and Rubinstein–Taybi
syndrome

Question 2

which subtype as best survisal of meduloblastoma

Answer 2

WNT, 94% 5 year

Question 3

which group has worse prognosis for medulloblastoma

Answer 3

group 3, MYC mutation, 30% survival rate

Question 4

what common genetic group for supra tentorial ependymomas

Answer 4

SUPRAtentorial Ephrin

Question 5

spinal ependymoma mutation

Answer 5

HOX genes

Question 6

which posterior fossa group (A or B) had better prognosis and where was location

Answer 6

Group B had NEll and 95% 5 year survival
Group A LAMA was LATERAL
69% survival

Question 7

AT RT mutations

Answer 7

AT RT are very SMARC B1

Question 8

genetic mutation in familial form of moya moya disease

Answer 8

RNF213 on chromosone 17Q25.3 95% of familial, 79% of sporadic cases

Question 9

rate of genetic caused of craniosynostosis

Answer 9

21%, 86% were single gene mutations- FGFR2 32% and FGFR 3 25%, TWIST 1 9%

Question 10

genetic basis for holoprosencephaly

Answer 10

genetically and fenotypically heterogenous- multiple hit- most frequent genes SHH, SIX3, and TGIF

Question 11

genetic basis of congenital hydrocephalus presence

Answer 11

18% have a gentic basis

Question 12

most common genetic cause

Answer 12

L1 syndrome- X linked hydrocephalus- 5% of congenital hydro in males