ABSTRACT
Spinocerebellar ataxia type 2 (SCA2) and amyotrophic lateral sclerosis (ALS) share a common molecular basis: both are associated with CAG-repeat expansion of ATXN2 and TDP-43-positive neuronal cytoplasmic inclusions. To date, the two disorders are viewed as clinically distinct with ALS resulting from 30-33 CAG-repeats and SCA2 from >34 CAG-repeats. We describe a 67-year old with a 32 CAG-repeat expansion of ATXN2 who presented with simultaneous symptoms of ALS and SCA2. Our case demonstrates that the clinical dichotomy between SCA2 and ATXN2-ALS is false. We suggest instead that CAG-repeat expansion length determines the timing of SCA2 clinical symptoms relative to onset of ALS; consistent with this age of onset of SCA2 but not ATXN2-ALS, is dependent upon expansion length. Review of the literature and our local cohort provides evidence for occurrence of ALS in late stage SCA2, which may be under-recognised by clinicians who think of the two diseases as distinct.
Subject(s)
Amyotrophic Lateral Sclerosis , Spinocerebellar Ataxias , Aged , Amyotrophic Lateral Sclerosis/genetics , Ataxin-2/genetics , Cohort Studies , Humans , Spinocerebellar Ataxias/genetics , Trinucleotide Repeat Expansion/geneticsABSTRACT
Once thought of as purely the body's chief energy store, adipose tissue and its constituent adipocytes have emerged as both a metabolic entity and an endocrine one. Complement is generally thought of as originating mainly from hepatic synthesis but also from synthesis by the macrophage phagocyte system. This review revisits early descriptions of adipocytic synthesis of complement components and highlights the need of a systematic analysis of the contribution of adipose tissue to systemic inflammation in order to appreciate the immunological activity of this tissue.
