Cognitive and affective impairments of a novel SCA/MND crossroad mutation Asidan

European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies
K AbeAkio Koizumi

Abstract

A variety of hereditary spinocerebellar ataxia (SCA) develops a broad spectrum of both ataxia and non-ataxia symptoms. Cognitive and affective changes are one such non-ataxia symptoms, but have been described only in hereditary SCAs with exonic CAG gene expansion. We newly found intronic hexanucleotide GGCCTG gene expansion in NOP56 gene as the causative mutation (=SCA36) in nine unrelated Japanese familial SCA originating from Asida river area in the western part of Japan, thus nicknamed Asidan for this mutation. These patients show unique clinical balance of cerebellar ataxia and motor neuron disease (MND), locating on the crossroad of these two diseases. In the nine families, 14 patients were clinically examined and genetically confirmed to Asidan. In the present study, we examined cognitive and affective analyses on 12 patients (seven men and five women) who agreed to join the examination with average age at onset of 53.1 ± 3.2 years, average duration of 12.1 ± 5.2 years, and current average age at 65.1 ± 6.2 years. The 12 Asidan patients demonstrated a significant decrease in their frontal executive functions measured by frontal assessment battery (FAB) and Montreal cognitive assessment (MoCA) compared with age- and gender...Continue Reading

References

Nov 1, 1975·Journal of Psychiatric Research·M F FolsteinP R McHugh
Aug 1, 1992·Neurology·J GrafmanM Hallett
Nov 1, 1991·Archives of Neurology·J D Schmahmann
Mar 1, 1994·Journal of Clinical Psychology·E L Lesher, J S Berryhill
Nov 1, 1993·Stroke; a Journal of Cerebral Circulation·S E StarksteinR G Robinson
Sep 1, 1996·Annals of Neurology·P MaruffJ Currie
Mar 1, 1996·Journal of the Neurological Sciences·M WatanabeY Itoyama
Dec 31, 1997·Stroke; a Journal of Cerebral Circulation·K OkadaS Yamaguchi
Mar 14, 1998·Acta Neuropathologica·H SasakiK Nagashima
May 12, 1998·Journal of Neurology, Neurosurgery, and Psychiatry·R SchlösserJ D Brodie
May 13, 1998·Brain : a Journal of Neurology·J D Schmahmann, J C Sherman
Nov 25, 1998·Brain : a Journal of Neurology·M Gomez-Beldarrain, J C Garcia-Monco
Apr 22, 1999·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·M VercellettoJ R Feve
Dec 13, 2000·Neurology·B DuboisB Pillon
Jul 17, 2001·European Neurology·K BürkJ Dichgans
Aug 7, 2002·Journal of the Neurological Sciences·Francesco Le PiraSalvatore Giuffrida
Oct 3, 2002·Movement Disorders : Official Journal of the Movement Disorder Society·Tricia M ZawackiLewis Sudarsky
Feb 8, 2003·Journal of Neurology·K BürkJ Dichgans
Aug 1, 1960·Journal of Consulting Psychology·D P CROWNE, D MARLOWE
Jan 1, 1965·Archives of General Psychiatry·W W ZUNG
Oct 19, 2004·Journal of Neurology, Neurosurgery, and Psychiatry·B GottwaldH M Mehdorn
Nov 10, 2004·Archives of Neurology·Yoshinari KawaiGen Sobue
Jan 25, 2005·Lancet Neurology·Vincent Meininger
Apr 9, 2005·Journal of the American Geriatrics Society·Ziad S NasreddineHoward Chertkow
Apr 13, 2005·Neurology·S AbrahamsL H Goldstein
May 18, 2005·The Cerebellum·Xi Lin, Tetsuo Ashizawa
Feb 2, 2006·Movement Disorders : Official Journal of the Movement Disorder Society·Tanja Schmitz-HübschThomas Klockgether
Jun 14, 2006·Neurology·T Schmitz-HübschRoberto Fancellu
Aug 8, 2007·Journal of Neurology, Neurosurgery, and Psychiatry·M SuenagaG Sobue
Sep 6, 2007·The Cerebellum·Katrin Bürk
Mar 1, 2008·Science·Jemeen SreedharanChristopher E Shaw
Dec 24, 2008·Journal of the Neurological Sciences·A PalmieriC Angelini

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Citations

Nov 13, 2012·Journal of the Neurological Sciences·Yoshio IkedaKoji Abe
Nov 14, 2012·Journal of the Neurological Sciences·Nobutoshi MorimotoKoji Abe
Apr 11, 2014·Acta Neuropathologica·Dirk BäumerOlaf Ansorge
Feb 11, 2015·Journal of the Neurological Sciences·K AbeY Takao
Jul 4, 2012·Movement Disorders : Official Journal of the Movement Disorder Society·Katsunobu SugiharaHideshi Kawakami
Feb 8, 2013·Movement Disorders : Official Journal of the Movement Disorder Society·Ai MiyashiroRyuji Kaji
Jul 6, 2014·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·W LiuK Abe
Jan 18, 2014·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·A H V Schapira
Sep 25, 2015·Journal of Alzheimer's Disease : JAD·Kosuke MatsuzonoKoji Abe
Apr 29, 2016·Neurology. Genetics·Yi-Chung LeeBing-Wen Soong
Jan 17, 2015·Neurología : publicación oficial de la Sociedad Española de Neurología·M AriasM J Sobrido
Jun 11, 2019·International Journal of Geriatric Psychiatry·HuiPing XueYongBing Liu
Apr 10, 2020·The Cerebellum·R Martínez-RegueiroM Fernández-Prieto
Nov 20, 2016·Movement Disorders : Official Journal of the Movement Disorder Society·Pablo AguiarJulia Cortés
Apr 4, 2017·Rinshō shinkeigaku = Clinical neurology·Koji Abe
Jul 25, 2019·Neurología : publicación oficial de la Sociedad Española de Neurología·A Robles Bayón

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