Tripeptidyl Peptidase 1 (TPP1) Deficiency in a 36-Year-Old Patient with Cerebellar-Extrapyramidal Syndrome and Dilated Cardiomyopathy

Tripeptidyl Peptidase 1 (TPP1) Deficiency in a 36-Year-Old Patient with Cerebellar-Extrapyramidal Syndrome and Dilated Cardiomyopathy

We report on a 36-year-old man with cerebellar-extrapyramidal syndrome and severe heart failure because of dilated cardiomyopathy of unknown origin. Dysarthria and cardiac arrhythmia began at early childhood (4 years of age). Brain MRI (28 years of age) demonstrated severe cerebellar atrophy. At the...

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Bibliographic Details
Main Authors: Agnieszka Ługowska, Joanna K. Purzycka-Olewiecka, Rafał Płoski, Grażyna Truszkowska, Maciej Pronicki, Paulina Felczak, Mateusz Śpiewak, Aleksandra Podlecka-Piętowska, Martyna Sitek, Zofia T. Bilińska, Przemysław Leszek, Małgorzata Bednarska-Makaruk
Format: Article
Language:English
Published: MDPI AG 2021-12-01
Series:Life
Subjects:
tripeptidyl peptidase 1 (TPP1)
ceroid lipofuscinosis 2 (CLN2)
autosomal recessive spinocerebellar ataxia type 7 (SCAR7)
dilated cardiomyopathy
cerebellar ataxia
Online Access:https://www.mdpi.com/2075-1729/12/1/3

Internet

https://www.mdpi.com/2075-1729/12/1/3

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