PaperGerman-Canadian family (family A) with parkinsonism, amyotrophy, and dementia — Longitudinal observations
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Cited by (69)
Towards a biological diagnosis of PD
2024, Parkinsonism and Related DisordersPET Molecular Imaging in Familial Parkinson's Disease
2018, International Review of NeurobiologyCitation Excerpt :Other series have shown a variety of pathological changes, most commonly neuronal loss and gliosis in the substantia nigra and variable distributions of Lewy bodies and/or neurites (Funayama et al., 2005; Gaig & Tolosa, 2009; Hasegawa et al., 2009; Khan, Jain, et al., 2005; Martí-Massó et al., 2009; Puschmann et al., 2012; Wszolek et al., 2004). Based on large family studies including patients with different LRRK2 mutations, the distribution of PET dopaminergic tracer changes in LRRK2-PD is similar to iPD (Adams et al., 2005; Hasegawa et al., 2009; Sossi et al., 2010; Wszolek et al., 1995, 1997). Patients show a posterior-to-anterior gradient of dopamine deficiency contralateral to the clinically more affected side, with earlier and more severe dopaminergic dysfunction of the posterior putamen relative to caudate.
Clinical heterogeneity of LRRK2 p.I2012T mutation
2016, Parkinsonism and Related DisordersCitation Excerpt :The majority of previously described LRRK2 mutations are either p.R1441C/G/H on the Ras of complex proteins (ROC) domain or p.G2019S on the kinase domain, and have clinical phenotypes of typical late-onset levodopa-responsive PD. However, a small number of reported cases show atypical features, such as dementia, dystonia, amyotrophy, and progressive supranuclear palsy [19,20]. Notably, p.G2019S mutation was detected in a 79-year-old man with a clinical and neuropathological diagnosis of frontotemporal dementia [21].
Genotype-Phenotype Correlations in Parkinson Disease
2015, Movement Disorders: Genetics and Models: Second EditionTDP-43 pathology in a patient carrying G2019S LRRK2mutation and a novel p.Q124E MAPT
2013, Neurobiology of AgingCitation Excerpt :Rajput et al reported a case with slow, progressive, non–levodopa-responsive parkinsonism and tau-positive NFTs resembling the neuropathology of PSP (Rajput et al., 2006), Giasson et al and Gaig et al each reported a case with classical tremor-dominant parkinsonism and pure nigral degeneration (Gaig et al., 2008; Giasson et al., 2006), and, Dachsel et al reported a case with dementia and tremor and pathology consisted of FTLD with ubiquitinated neuronal inclusions (FTLD-U) (Dachsel et al., 2007). On the other hand, pleomorphic pathologies including α-synuclein, tau, and ubiquitin seem to be more commonly associated with other pathogenic LRRK2 mutations (Hasegawa and Kowa, 1997; Hasegawa et al., 2009; Santpere and Ferrer, 2009; Wszolek et al., 1997, 2004; Zimprich et al., 2004). We report a case with LRRK2 G2019S mutation clinically diagnosed as Parkinson's disease, with good levodopa response, in which neuropathological analysis revealed nigral degeneration with an absence of Lewy bodies, Alzheimer-type tau, and TDP-43 pathologies.