RT Journal Article
SR Electronic
T1 Hypothalamic atrophy is related to body mass index and age at onset in amyotrophic lateral sclerosis
JF Journal of Neurology, Neurosurgery & Psychiatry
JO J Neurol Neurosurg Psychiatry
FD BMJ Publishing Group Ltd
SP 1033
OP 1041
DO 10.1136/jnnp-2017-315795
VO 88
IS 12
A1 Martin Gorges
A1 Pauline Vercruysse
A1 Hans-Peter Müller
A1 Hans-Jürgen Huppertz
A1 Angela Rosenbohm
A1 Gabriele Nagel
A1 Patrick Weydt
A1 Åsa Petersén
A1 Albert C Ludolph
A1 Jan Kassubek
A1 Luc Dupuis
YR 2017
UL http://jnnp.bmj.com/content/88/12/1033.abstract
AB Objective Our objective was to study the hypothalamic volume in a cohort of patients with amyotrophic lateral sclerosis (ALS) including symptomatic and presymptomatic ALS mutation carriers.Methods High-resolution three-dimensional T1-weighted MRI datasets from 251 patients with sporadic ALS, 19 symptomatic and 32 presymptomatic ALS mutation carriers and 112 healthy controls (HC) were retrospectivally registered for manual delineation of the hypothalamus. The volume of the hypothalamus, in total or subdivided, was normalised to the intracranial volume and adjusted to age. Correlation analyses were performed with clinical and metabolic outcomes. Pathologically defined ALS stages were determined in vivo by diffusion tensor imaging (DTI).Results We observed a severe atrophy of the hypothalamus both in patients with sporadic ALS (−21.8%, p<0.0001) and symptomatic ALS mutation carriers (−13.4%, p<0.001). The atrophy in patients with sporadic ALS was observed in both the anterior (−27.6% p<0.0001) and the posterior parts of the hypothalamus (−17.7%, p<0.0001). Notably, this atrophy was also observed in presymptomatic ALS mutation carriers (−15.5%, p<0.001) and was unrelated to whole brain volume atrophy or disease stage as assessed using DTI or functional status. Hypothalamic volume was correlated with body mass index (BMI) in patients with sporadic ALS (p=0.0434, ρ=+0.1579), and this correlation was much stronger in patients with familial ALS (fALS) (p=0.0060, ρ=+0.6053). Anterior hypothalamic volume was correlated with age at onset, but not with survival after MRI.Conclusions Hypothalamus is atrophied in ALS, even in premorbid stages, and correlates with BMI, especially in fALS. Decreased anterior hypothalamic volume is associated with earlier onset of disease.