Abstract
Spinocerebellar ataxia 7 (SCA7) is characterised by cerebellar ataxia and visual loss. The aim of the present study was to elucidate the magnetic resonance imaging (MRI) findings characteristic of patients with SCA7. Twenty patients with SCA (eight SCA3, three SCA6, and nine SCA7) and 20 control subjects underwent an MRI-based volumetric analysis. The pontine volume in patients with SCA7 was decreased by a greater amount than in patients with other types of SCA (p<0.01), whereas the cerebellar volume was not different from that in other types of SCA (p>0.05). Pontine atrophy was a consistent finding in all patients with SCA7 regardless of the degree of cerebellar atrophy or the severity or duration of illness. In contrast, cerebellar atrophy was not found in those with a short duration of illness or mild ataxia, but became prominent as the severity and duration of illness progressed. Our study suggests that neurodegeneration is ongoing during the life of individuals with SCA7, and that the primary pathology in these individuals involves the brainstem rather than the cerebellum. In addition, pontine atrophy is a prominent, consistent finding in SCA7, and may help in establishing the clinical diagnosis of SCA7.
References
Nov 1, 1991·Neurology·M YonedaS Tsuji
Sep 1, 1988·Journal of Neuropathology and Experimental Neurology·S M de la MonteE P Richardson
Sep 5, 1995·Biochemical and Biophysical Research Communications·M NakamuraJ Kimura
Jan 1, 1994·Acta Neuropathologica·J J MartinH Smet-Dieleman
Nov 1, 1994·Nature Genetics·Y KawaguchiI Akiguchi
Aug 1, 1994·Neurology·L G GouwL J Ptacek
Jul 1, 1993·Nature Genetics·H T OrrH Y Zoghbi
Nov 1, 1996·Nature Genetics·S M PulstS Sahba
Oct 1, 1996·Brain : a Journal of Neurology·K BürkT Klockgether
Jan 1, 1997·Nature Genetics·O ZhuchenkoC C Lee
Mar 21, 1998·Human Molecular Genetics·G DavidA Brice
Mar 21, 1998·Human Molecular Genetics·J JohanssonM Holmberg
Mar 14, 1998·Acta Neuropathologica·H SasakiK Nagashima
May 23, 1998·Human Molecular Genetics·M HolmbergA Brice
Jul 29, 1998·Brain : a Journal of Neurology·A D LawrenceB J Sahakian
Sep 25, 1998·Neurology·Y AbeG Sobue
Oct 8, 1998·Brain : a Journal of Neurology·T KlockgetherJ Dichgans
Oct 21, 1998·Archives of Neurology·Y MurataS Nakamura
Jan 5, 1999·Brain : a Journal of Neurology·N WadiaS Chamberlain
May 1, 1999·Journal of the Neurological Sciences·S GilmanG K Wenning
Aug 6, 1999·Ryōikibetsu shōkōgun shirīzu·H Mizusawa
Sep 29, 1999·Journal of the Neurological Sciences·J MartinC Van Broeckhoven
Dec 22, 1999·European Neurology·M SugawaraO Masamune
Dec 2, 2000·Brain : a Journal of Neurology·G CancelA Brice
Feb 15, 2001·Archives of Neurology·B SoongH Lee
Jun 21, 2001·Annals of Neurology·A K OhR W Baloh
Nov 2, 2001·Trends in Molecular Medicine·R L Margolis, C A Ross
Feb 15, 2002·Archives of Neurology·Daisuke ItoYasuo Fukuuchi
Mar 21, 2002·Acta Neurologica Scandinavica·K IkedaM Nakagawa
Citations
Feb 23, 2008·Surgical and Radiologic Anatomy : SRA·Niyazi AcerZöhre Irmak
Apr 18, 2008·The Cerebellum·Susanne DöhlingerJörg B Schulz
Apr 18, 2008·The Cerebellum·Gwenn A Garden, Albert R La Spada
Aug 19, 2011·The Cerebellum·Brian C JungSarah H Ying
Jul 26, 2012·The Cerebellum·Stuart CurrieNigel Hoggard
Aug 27, 2010·Neurology India·Yan HanYangtai Guan
May 26, 2012·TheScientificWorldJournal·Ümit Erkan VurdemMehmet Fatih Inci
Feb 27, 2013·Progress in Neurobiology·Udo RübThomas Deller
Aug 25, 2012·Brain Research·Bernd FriedrichBirgit Zucker
Jan 5, 2006·Brain Pathology·U RübR A I de Vos
Aug 9, 2013·Movement Disorders : Official Journal of the Movement Disorder Society·Carlos R Hernandez-CastilloJuan Fernandez-Ruiz
Jun 13, 2015·Neurology·Roderick P P W M MaasBart P C van de Warrenburg
Jun 27, 2015·Chinese Medical Journal·Jian-Wen ChenChun-Bo Dong
Apr 29, 2015·Brain Imaging and Behavior·Carlos R Hernandez-CastilloJuan Fernandez-Ruiz
Dec 15, 2010·NeuroImage·Sarael AlcauterJuan Fernández-Ruiz
Jun 1, 2011·Arquivos de neuro-psiquiatria·Sarah Teixeira CamargosAntonio Carlos dos Santos
Jul 15, 2017·Brain Sciences·Evelyn Lindsay, Elsdon Storey
Aug 15, 2017·Expert Review of Neurotherapeutics·Lidia SarroCaterina Mariotti
Jan 1, 2014·Cerebellum & Ataxias·Carlos R Hernandez-CastilloJuan Fernandez-Ruiz
Jul 14, 2020·Medicinal Research Reviews·Epaminondas Doxakis
Mar 19, 2021·Neuroradiology·Sirio CocozzaArturo Brunetti
Jul 3, 2021·AJNR. American Journal of Neuroradiology·C R Hernandez-CastilloJ Fernandez-Ruiz