SQSTM1 Pro392Leu presenting as a corticobasal syndrome with progressive nonfluent aphasia.
Parkinsonism Relat Disord
; 123: 106069, 2024 Jun.
Article
in En
| MEDLINE
| ID: mdl-38493523
ABSTRACT
Corticobasal syndrome is generally considered to be a sporadic condition. There are familial and isolated genetic cases, associated with GRN, MAPT, c9orf72 or PNRP variants. Some reports implicate other genes LRRK2, CHMP2B, GBA, CYP27A1, PSEN1, APP, TARDBP and TBK1. Here, we report a case of a patient carrying a SQSTM1 Pro392Leu variant. We report a 57-year-old right-handed-woman with a history of progressive speech impairment, marked right side rigidity and bradykinesia, with rest tremor and stimulus sensitive myoclonus. She had predominantly right-sided apraxia. She had right side agraphestesia and astereognosis. MRI showed asymmetrical left frontotemporoparietal atrophy. DaTSCAN showed predominantly left involvement, PiB-PET was negative. CSF NfL was of 9356.5pg/mL. She carried a heterozygous variant P392L in SQSTM1. This case report expands the spectrum of phenotypes associated with SQSTM1 pathogenic variants. It also expands the list of genes associated with corticobasal syndrome, supporting the involvement of the ubiquitin-proteasome system in this condition.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Primary Progressive Nonfluent Aphasia
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Sequestosome-1 Protein
Limits:
Female
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Humans
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Middle aged
Language:
En
Journal:
Parkinsonism Relat Disord
Journal subject:
NEUROLOGIA
Year:
2024
Document type:
Article
Country of publication:
Reino Unido