Early-onset parkinsonism-intellectual disability syndrome | |
---|---|
Parkinsonian gait | |
Specialty | Medical genetics |
Prognosis | Medium |
Frequency | very rare, more than 12 cases have been described in medical literature |
Deaths | - |
Early-onset parkinsonism-intellectual disability syndrome is a very rare genetic disorder which is characterized by intellectual disabilities, psychomotor developmental delays, macrocephaly, and Parkinson's disease which starts before the age of 45 (early onset PD).[1][2][3] Additional symptoms include epilepsy, strabismus, and frontal bossing.[4]
This disorder is either caused by alterations or deletions of the RAB39B gene in chromosome Xq28 which are inherited in an X-linked recessive manner.[5]
More than 12 cases from 3 families from Australia and the U.S. have been described in medical literature.[6][7][8][9]