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DOI 10.5414/np300789

Медицинская библиотека · Clinical neuropathology · 2015

The coexistence of dynamin 2 mutation and multiple mitochondrial DNA (mtDNA) deletions in the background of severe cardiomyopathy and centronuclear myopathy.

Gal Aniko, Inczedy-Farkas Gabriella, Pal Endre, Remenyi Viktoria, Bereznai Benjamin, Geller Laszlo, Szelid Zsolt, Merkely Bela, Molnar Maria Judit

Клинический случайСтатьяПоддержка исследования: вне правительства СШАПеревод пока не подготовлен

Аннотация

Cognitive impairment (CI) in alcohol-related liver cirrhosis (ALD) is often underestimated, primarily attributed to hepatic encephalopathy (HE), despite evidence suggesting that deficits may persist after liver transplantation (LT). This study assessed CI both before and after LT through a structured psychiatric evaluation. A total of 101 ALD patients listed for LT were assessed; 61 underwent transplantation. Three patients died pre-LT, and six post-LT, leaving 55 for longitudinal cognitive evaluation. The Addenbrooke's Cognitive Examination III (ACE III) was administered at LT listing and 7.1 months post-LT. Pre-LT CI was prevalent, with 86% scoring below the ACE III threshold. Mild cognitive impairment (MCI) was observed in 33%, and 52% had a high probability of dementia. Post-LT, ACE III scores improved (Δ +7.07 ± 8.47, P < 0.01), with the greatest gains in memory (+1.46, P = 0.01) and verbal fluency (+1.43, P = 0.02), while attention remained largely unchanged. Despite overall cognitive recovery, persistent deficits were observed, particularly in executive function and fluency. LT improves cognition, but persistent deficits suggest CI in ALD is not entirely reversible. These findings underscore the need for targeted cognitive interventions before and after LT.

Для цитирования: Gal Aniko, Inczedy-Farkas Gabriella, Pal Endre, Remenyi Viktoria, Bereznai Benjamin, Geller Laszlo, Szelid Zsolt, Merkely Bela, Molnar Maria Judit. The coexistence of dynamin 2 mutation and multiple mitochondrial DNA (mtDNA) deletions in the background of severe cardiomyopathy and centronuclear myopathy.. Clinical neuropathology. 2015. DOI: 10.5414/np300789.

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