Biomaterial Database

[Cortical reflex myoclonus in adult onset Huntington's disease]. 2004

Itaru Funakawa, and Kenichi Kimura, and Kenji Jinnai

Department of Neurology, National Hospital Organization Hyogo Chuo National Hospital.

We report a case of cortical reflex myoclonus in adult onset Huntington's disease (HD). The patient is a 51-year-old woman. Chorea and myoclonus were observed on her face and extremities. Neurophysiological tests showed C reflex and abnormal waves preceding myoclonus by jerk-locked back averaging method but no giant somatosensory evoked potential. Gene analysis revealed the prolongation of CAG repeats (13/44) in IT15 gene. Oral administration of clonazepam was transiently effective for myoclonus. We should inscribe that the cortical reflex myoclonus may exceptionally manifest in HD.

UI	MeSH Term	Description	Entries
D008875	Middle Aged	An adult aged 45 - 64 years.	Middle Age
D009207	Myoclonus	Involuntary shock-like contractions, irregular in rhythm and amplitude, followed by relaxation, of a muscle or a group of muscles. This condition may be a feature of some CENTRAL NERVOUS SYSTEM DISEASES; (e.g., EPILEPSY, MYOCLONIC). Nocturnal myoclonus is the principal feature of the NOCTURNAL MYOCLONUS SYNDROME. (From Adams et al., Principles of Neurology, 6th ed, pp102-3).	Myoclonus, Action,Myoclonus, Nocturnal,Myoclonus, Palatal,Polymyoclonus,Myoclonic Jerk,Myoclonic Jerking,Myoclonus Simplex,Myoclonus, Eyelid,Myoclonus, Intention,Myoclonus, Lower Extremity,Myoclonus, Oculopalatal,Myoclonus, Segmental,Myoclonus, Sleep,Myoclonus, Upper Extremity,Action Myoclonus,Extremity Myoclonus, Lower,Extremity Myoclonus, Upper,Eyelid Myoclonus,Intention Myoclonus,Jerk, Myoclonic,Jerking, Myoclonic,Jerks, Myoclonic,Lower Extremity Myoclonus,Myoclonic Jerks,Nocturnal Myoclonus,Oculopalatal Myoclonus,Palatal Myoclonus,Segmental Myoclonus,Simplex, Myoclonus,Sleep Myoclonus,Upper Extremity Myoclonus
D002540	Cerebral Cortex	The thin layer of GRAY MATTER on the surface of the CEREBRAL HEMISPHERES that develops from the TELENCEPHALON and folds into gyri and sulci. It reaches its highest development in humans and is responsible for intellectual faculties and higher mental functions.	Allocortex,Archipallium,Cortex Cerebri,Cortical Plate,Paleocortex,Periallocortex,Allocortices,Archipalliums,Cerebral Cortices,Cortex Cerebrus,Cortex, Cerebral,Cortical Plates,Paleocortices,Periallocortices,Plate, Cortical
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D006816	Huntington Disease	A familial disorder inherited as an autosomal dominant trait and characterized by the onset of progressive CHOREA and DEMENTIA in the fourth or fifth decade of life. Common initial manifestations include paranoia; poor impulse control; DEPRESSION; HALLUCINATIONS; and DELUSIONS. Eventually intellectual impairment; loss of fine motor control; ATHETOSIS; and diffuse chorea involving axial and limb musculature develops, leading to a vegetative state within 10-15 years of disease onset. The juvenile variant has a more fulminant course including SEIZURES; ATAXIA; dementia; and chorea. (From Adams et al., Principles of Neurology, 6th ed, pp1060-4)	Huntington Chorea,Juvenile Huntington Disease,Akinetic-Rigid Variant of Huntington Disease,Chorea, Chronic Progressive Hereditary (Huntington),Chronic Progressive Hereditary Chorea (Huntington),Huntington Chronic Progressive Hereditary Chorea,Huntington Disease, Akinetic-Rigid Variant,Huntington Disease, Juvenile,Huntington Disease, Juvenile-Onset,Huntington Disease, Late Onset,Huntington's Chorea,Huntington's Disease,Juvenile-Onset Huntington Disease,Late-Onset Huntington Disease,Progressive Chorea, Chronic Hereditary (Huntington),Progressive Chorea, Hereditary, Chronic (Huntington),Akinetic Rigid Variant of Huntington Disease,Chorea, Huntington,Chorea, Huntington's,Huntington Disease, Akinetic Rigid Variant,Huntington Disease, Juvenile Onset,Huntington Disease, Late-Onset,Juvenile Onset Huntington Disease,Late Onset Huntington Disease