Citations 2
Perry Disease: Expanding the Genetic Basis
Dulski, Jarosław , Koga, Shunsuke , Liberski, Paweł P. , Sitek, Emilia J. , Butala, Ankur , Koga, Shunsuke , Dulski, Jaroslaw , Sławek, Jarosław , Dickson, Dennis W. , Wszołek, Zbigniew K.
Movement Disorders Clinical Practice | May 5, 2023 | Volume: 10 | Issue: 7 | Pages: 1136-1142
AbstractBackgroundPerry disease (or Perry syndrome [PS]) is a hereditary neurodegenerative disorder inevitably leading to death within few years from onset. All previous cases with pathological confirmation were caused by mutations within the cytoskeleton‐associated protein glycine‐rich (CAP‐Gly) domain of the DCTN1 gene.ObjectivesThis paper presents the first clinicopathological report of PS due to a novel DCTN1 mutation outside the CAP‐Gly domain.MethodsClinical and pathological features of the new variant carrier are compared with another recently deceased PS case with a well‐known pathogenic DCTN1 mutation and other reported cases.Results and ConclusionsWe report a novel DCTN1 mutation outside the CAP‐Gly domain that we demonstrated to be pathogenic based on clinical and autopsy findings.
Expansion of the clinical spectrum associated with AARS2‐related disorders
Srivastava, Siddharth , Butala, Ankur , Mahida, Sonal , Richter, John E. , Mu, Weiyi , VanGerpen, Jay A., Middlebrooks, Erik H. , Zee, David S. , Naidu, SakkuBai, Richter, John, VanGerpen, Jay, Middlebrooks, Erik H , Poretti, Andrea , Vernon, Hilary J. , Atwal, Paldeep S , Naidu, Sakkubai
American Journal of Medical Genetics Part A | May 17, 2019 | Volume: 179 | Issue: 8 | Pages: 1556-1564
AbstractBiallelic pathogenic variants in AARS2, a gene encoding the mitochondrial alanyl‐tRNA synthetase, result in a spectrum of findings ranging from infantile cardiomyopathy to adult‐onset progressive leukoencephalopathy. In this article, we present three unrelated individuals with novel compound heterozygous pathogenic AARS2 variants underlying diverse clinical presentations. Patient 1 is a 51‐year‐old man with adult‐onset progressive cognitive, psychiatric, and motor decline and leukodystrophy. Patient 2 is a 34‐year‐old man with childhood‐onset progressive tremor followed by the development of polyneuropathy, ataxia, and mild cognitive and psychiatric decline without leukodystrophy on imaging. Patient 3 is a 57‐year‐old woman with childhood‐onset tremor and nystagmus which preceded dystonia, chorea, ataxia, depression, and cognitive decline marked by cerebellar atrophy and white matter disease. These cases expand the clinical heterogeneity of AARS2‐related disorders, given that the first and third case represent some of the oldest known survivors of this disease, the second is adult‐onset AARS2‐related neurological decline without leukodystrophy, and the third is biallelic AARS2‐related disorder involving a partial gene deletion.