MRI data confirm the selective involvement of thalamic and amygdalar nuclei in amyotrophic lateral sclerosis and primary lateral sclerosis
Rangariroyashe H. Chipika,
We Fong Siah,
Stacey Li Hi Shing,
Eoin Finegan,
Mary Clare McKenna,
Foteini Christidi,
Kai Ming Chang,
Efstratios Karavasilis,
Alice Vajda,
Jennifer C. Hengeveld,
Mark A. Doherty,
Colette Donaghy,
Siobhan Hutchinson,
Russell L. McLaughlin,
Orla Hardiman,
Peter Bede
Affiliations
Rangariroyashe H. Chipika
Computational Neuroimaging Group, Biomedical Sciences Institute, Trinity College Dublin, Ireland
We Fong Siah
Computational Neuroimaging Group, Biomedical Sciences Institute, Trinity College Dublin, Ireland
Stacey Li Hi Shing
Computational Neuroimaging Group, Biomedical Sciences Institute, Trinity College Dublin, Ireland
Eoin Finegan
Computational Neuroimaging Group, Biomedical Sciences Institute, Trinity College Dublin, Ireland
Mary Clare McKenna
Computational Neuroimaging Group, Biomedical Sciences Institute, Trinity College Dublin, Ireland
Foteini Christidi
First Department of Neurology, Aeginition Hospital, National and Kapodistrian University of Athens, Greece
Kai Ming Chang
Computational Neuroimaging Group, Biomedical Sciences Institute, Trinity College Dublin, Ireland; Electronics and Computer Science, University of Southampton, United Kingdom
Efstratios Karavasilis
2nd Department of Radiology, Attikon University Hospital, University of Athens, Athens, Greece
Alice Vajda
Complex Trait Genomics Laboratory, Smurfit Institute of Genetics, Trinity College Dublin, Ireland
Jennifer C. Hengeveld
Complex Trait Genomics Laboratory, Smurfit Institute of Genetics, Trinity College Dublin, Ireland
Mark A. Doherty
Complex Trait Genomics Laboratory, Smurfit Institute of Genetics, Trinity College Dublin, Ireland
Colette Donaghy
Department of Neurology, Western Health & Social Care Trust, Belfast, Northern Ireland, United Kingdom
Siobhan Hutchinson
Department of Neurology, St James's Hospital Dublin, Ireland
Russell L. McLaughlin
Complex Trait Genomics Laboratory, Smurfit Institute of Genetics, Trinity College Dublin, Ireland
Orla Hardiman
Computational Neuroimaging Group, Biomedical Sciences Institute, Trinity College Dublin, Ireland
Peter Bede
Computational Neuroimaging Group, Biomedical Sciences Institute, Trinity College Dublin, Ireland; Corresponding author.
A standardised imaging protocol was implemented to evaluate disease burden in specific thalamic and amygdalar nuclei in 133 carefully phenotyped and genotyped motor neuron disease patients. “Switchboard malfunction in motor neuron diseases: selective pathology of thalamic nuclei in amyotrophic lateral sclerosis and primary lateral sclerosis” [1] “Amygdala pathology in amyotrophic lateral sclerosis and primary lateral sclerosis” [2] Raw volumetric data, group comparisons, effect sizes and percentage change are presented. Both ALS and PLS patients exhibited focal thalamus atrophy in ventral lateral and ventral anterior regions revealing extrapyramidal motor degeneration. Reduced accessory basal nucleus and cortical nucleus volumes were noted in the amygdala of C9orf72 negative ALS patients compared to healthy controls. ALS patients carrying the GGGGCC hexanucleotide repeats in C9orf72 exhibited preferential pathology in the mediodorsal-paratenial-reuniens thalamic nuclei and in the lateral nucleus and cortico-amygdaloid transition area of the amygdala. Considerable thalamic atrophy was observed in the sensory nuclei and lateral geniculate region of PLS patients. Our data demonstrate genotype-specific patterns of thalamus and amygdala involvement in ALS and a distinct disease-burden pattern in PLS. The dataset may be utilised for validation purposes, meta-analyses and the interpretation of thalamic and amygdalar profiles from other ALS genotypes.
