Approximately 15 % of PD patients with Parkinson Disease (PD) have the familial type and 5–10 % of these are known to have monogenic forms with either an autosomal dominant or a recessive inheritance pattern. Here, we report on a family carrying the A53T SNCA mutation and we review SNCA mutation phenotypes by comparing point mutations within each other as well as with duplication and triplication.

Tambasco, N., Nigro, P., Romoli, M., Prontera, P., Simoni, S., Calabresi, P., A53T in a parkinsonian family: a clinical update of the SNCA phenotypes, <<JOURNAL OF NEURAL TRANSMISSION>>, 2016; 123 (11): 1301-1307. [doi:10.1007/s00702-016-1578-6] [http://hdl.handle.net/10807/173358]

A53T in a parkinsonian family: a clinical update of the SNCA phenotypes

Calabresi, Paolo
2016

Abstract

Approximately 15 % of PD patients with Parkinson Disease (PD) have the familial type and 5–10 % of these are known to have monogenic forms with either an autosomal dominant or a recessive inheritance pattern. Here, we report on a family carrying the A53T SNCA mutation and we review SNCA mutation phenotypes by comparing point mutations within each other as well as with duplication and triplication.
2016
Inglese
Tambasco, N., Nigro, P., Romoli, M., Prontera, P., Simoni, S., Calabresi, P., A53T in a parkinsonian family: a clinical update of the SNCA phenotypes, <<JOURNAL OF NEURAL TRANSMISSION>>, 2016; 123 (11): 1301-1307. [doi:10.1007/s00702-016-1578-6] [http://hdl.handle.net/10807/173358]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10807/173358
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