title: Structural changes associated with progression of motor deficits in spinocerebellar ataxia 17.
abstract: Spinocerebellar ataxia (SCA17) is a rare genetic disorder characterized by a variety of neuropsychiatric symptoms. Recently, using magnetic resonance imaging (MRI) voxel-based morphometry (VBM), several specific functional-structural correlations comprising differential degeneration related to motor and psychiatric symptoms were reported in patients with SCA17. To investigate gray matter volume (GMV) changes over time and its association to clinical neuropsychiatric symptomatology, nine SCA17 mutation carriers and nine matched healthy individuals underwent a detailed neuropsychiatric clinical examination and a high-resolution T1-weighted volume MRI scan, both at baseline and follow-up after 18 months. Follow-up images revealed a progressive GMV reduction in specific degeneration patterns. In contrast to healthy controls, SCA17 patients showed a greater atrophy not only in cerebellar regions but also in cortical structures such as the limbic system (parahippocampus, cingulate) and parietal precuneus. Clinically, progression of motor symptoms was more pronounced than that of psychiatric symptoms. Correlation with the clinical motor scores revealed a progressive reduction of GMV in cerebellar and cerebral motor networks, whereas correlation with psychiatric scores displayed a more widespread GMV impairment in frontal, limbic, parietal, and also cerebellar structures. Interestingly, changes in global functioning were correlated with bilateral atrophy within the para-/hippocampus. While there was a good temporal association between worsening of motor symptoms and progression in cerebral and cortical neurodegeneration, the progression in psychiatric related neurodegeneration seemed to be more widespread and complex, showing progressive atrophy that preceded the further development of clinical psychiatric symptoms.
authors.affiliation: Department of Neurology, RWTH Aachen University, Germany.
authors.forename: Kathrin
authors.initials: K
authors.lastname: Reetz
authors.forename: Rebekka
authors.initials: R
authors.lastname: Lencer
authors.forename: Johannes M
authors.initials: JM
authors.lastname: Hagenah
authors.forename: Christian
authors.initials: C
authors.lastname: Gaser
authors.forename: Vera
authors.initials: V
authors.lastname: Tadic
authors.forename: Uwe
authors.initials: U
authors.lastname: Walter
authors.forename: Alexander
authors.initials: A
authors.lastname: Wolters
authors.forename: Susanne
authors.initials: S
authors.lastname: Steinlechner
authors.forename: Christine
authors.initials: C
authors.lastname: Zühlke
authors.forename: Katja
authors.initials: K
authors.lastname: Brockmann
authors.forename: Christine
authors.initials: C
authors.lastname: Klein
authors.forename: Arndt
authors.initials: A
authors.lastname: Rolfs
authors.forename: Ferdinand
authors.initials: F
authors.lastname: Binkofski
mesh_terms: D000328:Adult; D001931:Brain Mapping; D018450:Disease Progression; D005260:Female; D006801:Humans; D007091:Image Processing, Computer-Assisted / Q000379:methods; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D008875:Middle Aged; D009069:Movement Disorders / Q000209:etiology* / Q000473:pathology*; D009154:Mutation / Q000235:genetics; D009460:Neurologic Examination; D020754:Spinocerebellar Ataxias / Q000150:complications* / Q000235:genetics / Q000473:pathology*; D013223:Statistics as Topic; D035181:TATA-Box Binding Protein / Q000235:genetics
chemical_list: D035181:TATA-Box Binding Protein; C509817:TBP protein, human