التفاصيل البيبلوغرافية
| العنوان: |
Tripeptidyl Peptidase 1 (TPP1) Deficiency in a 36-Year-Old Patient with Cerebellar-Extrapyramidal Syndrome and Dilated Cardiomyopathy |
| المؤلفون: |
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 |
| المصدر: |
Life; Volume 12; Issue 1; Pages: 3 |
| بيانات النشر: |
Multidisciplinary Digital Publishing Institute |
| سنة النشر: |
2021 |
| المجموعة: |
MDPI Open Access Publishing |
| مصطلحات موضوعية: |
tripeptidyl peptidase 1 (TPP1), ceroid lipofuscinosis 2 (CLN2), autosomal recessive spinocerebellar ataxia type 7 (SCAR7), dilated cardiomyopathy, cerebellar ataxia |
| جغرافية الموضوع: |
agris |
| الوصف: |
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 TPP1 gene, biallelic variants were identified: previously reported p.(Leu13Pro) and novel p.(Tyr508Cys) variant. Additionally, hemizygous novel missense variant in the ABCD1 gene was inherited from the mother p.(Arg17His). Normal very-long-chain fatty acids (VLCFA) levels both in patient and his mother excluded ABCD1 mutation as the pathogenic one. Tripeptidyl peptidase 1 (TPP1) activity was reduced (8,8 U/mg protein/h; reference range: 47.4 ± 10.7). In light microscopy the biopsy specimens obtained from explanted heart showed severe myocyte hypertrophy with perinuclear vacuolization with inclusions. Electron microscopy revealed absence of lipofuscin accumulation, no ultrastructural curvilinear profiles, fingerprint bodies, or granular osmiophilic deposits (GRODs) in lysosomes. As described here, the patient presents clinical symptoms observed in benign forms of ceroid lipofuscinosis type 2 (CLN2) and simultaneously some features of autosomal recessive spinocerebellar ataxia type 7 (SCAR7), which is also caused by mutations in the TPP1 gene. |
| نوع الوثيقة: |
text |
| وصف الملف: |
application/pdf |
| اللغة: |
English |
| Relation: |
Genetics and Genomics; https://dx.doi.org/10.3390/life12010003 |
| DOI: |
10.3390/life12010003 |
| الاتاحة: |
https://doi.org/10.3390/life12010003 |
| Rights: |
https://creativecommons.org/licenses/by/4.0/ |
| رقم الانضمام: |
edsbas.F70ACAAD |
| قاعدة البيانات: |
BASE |