Perry Syndrome Flashcards
1
Q
What is the symptoms of Perry Syndrome?
A
Progressive Brain disease (major presentation) Parkinsonism Psychiatric changes Weight loss Hypoventilation
2
Q
What gene is involved in Perry Syndrome?
A
DCTN1 gene
GLY7ARG
GLN74PRO
GLY7GLU
3
Q
What is the inheritance pattern for Perry Syndrome?
A
Autosomal dominant
4
Q
What is the phenotype of the heterozygous in Perry Syndrome?
A
They will express presentations of the syndrome