Progression of neuropsychiatric and cognitive features due to exons 2 to 5 deletion in the epsilon-sarcoglycan gene: a case report.

Abstract:

:Physical symptoms of myoclonus dystonia due to epsilon-sarcoglycan mutations are well documented; however, the progression of neuropsychiatric and cognitive symptoms remains unclear. We present a case of a 34-year-old woman with early childhood onset of myoclonic jerks, dystonic posture and developmental delay due to exons 2 to 5 deletion in the epsilon-sarcoglycan gene. Over time, she developed neuropsychiatric symptoms. She underwent bilateral deep brain stimulation of the ventral intermediate nucleus of the thalamus for her motor symptoms, which greatly improved but she exhibited slow deterioration of her neuropsychiatric and cognitive symptoms, particularly apathy, aggression and severe executive dysfunction.

journal_name

Neurocase

journal_title

Neurocase

authors

Multani N,Moro E,Lang A,Zurowski M,Duff Canning S,Tartaglia MC

doi

10.1080/13554794.2015.1120312

subject

Has Abstract

pub_date

2016-01-01 00:00:00

pages

215-9

issue

2

eissn

1355-4794

issn

1465-3656

journal_volume

22

pub_type

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