Familial episodic ataxia: clinical heterogeneity in four families linked to chromosome 19p

Annals of Neurology
R W BalohS F Nelson

Abstract

We describe the clinical and oculographic findings in 4 families with episodic ataxia and interictal nystagmus (EA-2) linked to chromosome 19p. Episodes varied from pure ataxia to combinations of symptoms suggesting involvement of the cerebellum, brainstem, and cortex. Some affected individuals exhibited a progressive ataxia syndrome phenotypically indistinguishable from the dominantly inherited spinocerebellar ataxia (SCA) syndromes. About one-half of the affected individuals had migraine headaches and several had episodes typical of basilar migraine. Oculographic findings were localizing to the vestibulocerebellum and posterior vermis. Additional genetic and environmental factors must account for the marked clinical heterogeneity in these families with an abnormal gene on chromosome 19p.

References

Dec 1, 1978·Neurology·R C GriggsJ McQuillen
Oct 1, 1991·Stroke; a Journal of Cerebral Circulation·E Tournier-LasserveM G Bousser
Feb 1, 1986·Brain : a Journal of Neurology·R W BalohV Honrubia
Jan 1, 1986·Movement Disorders : Official Journal of the Movement Disorder Society·S T Gancher, J G Nutt
Sep 1, 1981·Proceedings of the National Academy of Sciences of the United States of America·G I BellW J Rutter
Dec 1, 1984·Brain : a Journal of Neurology·A Kayan, J D Hood
Sep 1, 1983·Neurology·N L ZasorinL B Myers
Sep 1, 1980·Annals of Neurology·B ZifkinT Kirkham
Oct 1, 1994·Nature Genetics·L Ptácek
Mar 1, 1995·Annals of Neurology·R C Griggs, J G Nutt
Jun 1, 1994·Nature Genetics·G GyapayJ Weissenbach
Oct 1, 1995·Journal of Neurology, Neurosurgery, and Psychiatry·W J LubbersT W van Weerden
Mar 1, 1995·Annals of Neurology·K VahediE Tournier-Lasserve
Jul 1, 1994·Human Heredity·A A SchäfferR W Cottingham
Feb 1, 1994·Brain : a Journal of Neurology·C MoschnerR W Baloh
Sep 1, 1993·Nature Genetics·A JoutelJ Weissenbach
Jan 1, 1996·Annals of Neurology·M A ElliottE F May
Feb 1, 1996·Neurology·R W BalohS F Nelson
Dec 1, 1995·Cephalalgia : an International Journal of Headache·J HaanR Van Eyk
Feb 1, 1960·Journal of Neurology, Neurosurgery, and Psychiatry·G SELBY, J W LANCE

❮ Previous
Next ❯

Citations

Aug 6, 2000·Movement Disorders : Official Journal of the Movement Disorder Society·T KlockgetherB Evert
Dec 29, 2004·Annals of Neurology·Jijun WanJoanna C Jen
Jan 1, 1997·Annals of Neurology·O Hurko
Feb 9, 2002·Movement Disorders : Official Journal of the Movement Disorder Society·Kapil D Sethi, Joseph Jankovic
Mar 14, 2008·Journal of Neurology·Arun V KrishnanMatthew C Kiernan
Sep 21, 2013·Journal of Neurology·Stefan KipferRené M Müri
May 24, 2005·Current Pain and Headache Reports·J HaanM D Ferrari
Nov 30, 2000·Current Treatment Options in Neurology·J Jen
Mar 31, 2007·Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics·Sanjeev RajakulendranMichael G Hanna
Sep 21, 2000·Revista de neurologia·V L Ruggieri, C L Arberas
Jul 4, 1998·Lancet·A MelbergC E Westerberg
Sep 15, 1998·Trends in Neurosciences·T Klockgether, B Evert
Sep 5, 2001·Neurologic Clinics·H Paulson, Z Ammache
Jul 2, 2008·Parkinsonism & Related Disorders·S FurtadoO Suchowersky
Jan 18, 2002·Current Opinion in Neurology·Robert W Baloh
Apr 19, 2002·Annals of the New York Academy of Sciences·Robert W Baloh, Joanna C Jen
Nov 7, 2008·Journal of Neurophysiology·Gang ChenTimothy J Ebner
Apr 9, 1998·Brain & Development·N Gordon
Feb 17, 2010·The Journal of Physiology·Sanjeev RajakulendranStephanie Schorge
Apr 9, 2011·Otolaryngologic Clinics of North America·Jennie Taylor, Howard P Goodkin
Sep 8, 2009·Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology·Susan E TomlinsonDavid Burke
Aug 25, 2009·Progress in Neurobiology·Arun V KrishnanMatthew C Kiernan
Mar 18, 2009·Neurologic Clinics·Hannelore Neuhauser, Thomas Lempert
Feb 24, 2009·Journal of the Neurological Sciences·Ester Cuenca-LeónBru Cormand
Jan 22, 2008·Pediatric Neurology·Genevieve Bernard, Michael I Shevell
Aug 4, 2009·Annals of the New York Academy of Sciences·Thomas LempertRobert B Daroff
Jun 21, 2007·Headache·Maurice Vincent, Nouchine Hadjikhani
Sep 2, 2008·Movement Disorders : Official Journal of the Movement Disorder Society·Christoph GlobasLudger Schols
Mar 12, 2015·Movement Disorders : Official Journal of the Movement Disorder Society·Adolfo Ramirez-ZamoraJosé Biller
Mar 31, 2016·Rinshō shinkeigaku = Clinical neurology·Misako KaidoMasanori P Takahashi
Jul 20, 2005·Neurologic Clinics·Thomas Lempert, Hannelore Neuhauser
Jan 28, 2004·Neurologic Clinics·Hemant K Pandey, Jack E Riggs
Nov 5, 1997·American Journal of Human Genetics·Q YueR W Baloh
Aug 7, 2001·The Neuroscientist : a Review Journal Bringing Neurobiology, Neurology and Psychiatry·D M KullmannA Jouvenceau
Jan 20, 2004·Cephalalgia : an International Journal of Headache·H Neuhauser, T Lempert
May 26, 1998·American Journal of Medical Genetics·Q YueR W Baloh
Sep 19, 1998·American Journal of Medical Genetics·J S KimR W Baloh
Dec 19, 2003·Annals of Neurology·S H SubramonyChristopher M Gomez

❮ Previous
Next ❯

Related Concepts

Related Feeds

Ataxia

Ataxia is a neurological condition characterized by lack of voluntary coordination of muscle movements including loss of coordination, balance, and speech. Discover the latest research on ataxia here.

Ataxias (MDS)

Ataxia is a neurological condition characterized by lack of voluntary coordination of muscle movements including loss of coordination, balance, and speech. Discover the latest research on ataxia here.

Ataxias

Ataxia is a neurological condition characterized by lack of voluntary coordination of muscle movements including loss of coordination, balance, and speech. Discover the latest research on different types of ataxias here.