Tripeptidyl Peptidase 1 (TPP1) Deficiency in a 36-Year-Old Patient with Cerebellar-Extrapyramidal Syndrome and Dilated Cardiomyopathy.
autosomal recessive spinocerebellar ataxia type 7 (SCAR7)
cerebellar ataxia
ceroid lipofuscinosis 2 (CLN2)
dilated cardiomyopathy
tripeptidyl peptidase 1 (TPP1)
Journal
Life (Basel, Switzerland)
ISSN: 2075-1729
Titre abrégé: Life (Basel)
Pays: Switzerland
ID NLM: 101580444
Informations de publication
Date de publication:
21 Dec 2021
21 Dec 2021
Historique:
received:
18
09
2021
revised:
17
12
2021
accepted:
18
12
2021
entrez:
21
1
2022
pubmed:
22
1
2022
medline:
22
1
2022
Statut:
epublish
Résumé
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 age 32, he presented with dysarthria, ataxia, dystonia, and tremor of the right hand, bilateral slowed neural conduction in the visual pathways, and decreased mental acuity. At the age of 33 years, the patient underwent cardiac transplantation because of severe dilated cardiomyopathy. In the
Identifiants
pubmed: 35054396
pii: life12010003
doi: 10.3390/life12010003
pmc: PMC8779458
pii:
doi:
Types de publication
Case Reports
Langues
eng
Subventions
Organisme : National Science Center
ID : 2011/01/B/NZ4/03455
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