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Novel data-driven subtypes and stages of brain atrophy in the ALS-FTD spectrum

Translational Neurodegeneration 2023年第1期12卷 50-69页

作者： Ting Shen Jacob W.Vogel Jeffrey Duda Jeffrey S.Phillips Philip ACook James Gee Lauren Elman Colin Quinn Defne A.Amado Michael Baer Lauren Massimo murray grossman David J.Irwin Corey T.McMillan Penn Frontotemporal Degeneration Center Department of NeurologyPerelman School of MedicineUniversity of PennsylvaniaPhiladelphiaPA 19104USA Department of Clinical Sciences SciLifeLabLund University22242 LundSweden Penn Image Computing and Science Lab(PICSL) Department of RadiologyPerelman School of MedicineUniversity of Penn-sylvaniaPhiladelphiaPA 19104USA Department of Neurology Perelman School of MedicineUniversity of PennsylvaniaPhiladelphiaPA 19104USA Digital Neuropathology Laboratory Department of NeurologyPerelman School of MedicineUniversity of PennsylvaniaPhiladelphiaPA 19104USA.

Background TDP-43 proteinopathies represent a spectrum of neurological disorders,anchored clinically on either end by amyotrophic lateral sclerosis(ALS)and frontotemporal degeneration(FTD).The ALS-FTD spectrum exhibits a diverse range of clinical presentations with overlapping phenotypes,highlighting its *** study was aimed to use disease progression modeling to identify novel data-driven spatial and temporal subtypes of brain atrophy and its progression in the ALS-FTD *** We used a data-driven procedure to identify 13 anatomic clusters of brain volume for 57 behavioral variant FTD(bvFTD;with either autopsy-confirmed TDP-43 or TDP-43 proteinopathy-associated genetic variants),103 ALS,and 47 ALS-FTD patients with likely TDP-43.A Subtype and Stage Inference(SuStaIn)model was trained to identify subtypes of individuals along the ALS-FTD spectrum with distinct brain atrophy patterns,and we related subtypes and stages to clinical,genetic,and neuropathological features of *** SuStaIn identified three novel subtypes:two disease subtypes with predominant brain atrophy in either prefrontal/somatomotor regions or limbic-related regions,and a normal-appearing group without obvious brain *** limbic-predominant subtype tended to present with more impaired cognition,higher frequencies of pathogenic variants in TBK1 and TARDBP genes,and a higher proportion of TDP-43 types B,E and *** contrast,the prefrontal/somatomotor-predominant subtype had higher frequencies of pathogenic variants in C9orf72 and GRN genes and higher proportion of TDP-43 type *** normal-appearing brain group showed higher frequency of ALS relative to ALS-FTD and bvFTD patients,higher cognitive capacity,higher proportion of lower motor neuron onset,milder motor symptoms,and lower frequencies of genetic pathogenic *** overall SuStaIn stages also correlated with evidence for clinical progression including longer disease duration,higher King’s stage,and cog

关键词： Amyotrophic lateral sclerosis Frontotemporal degeneration Disease heterogeneity SuStaIn model

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