Biomaterial Database

Brain-stem auditory evoked potentials and blink reflex in Friedreich's ataxia. 1991

C De Pablos, and J Berciano, and J Calleja

Service of Clinical Neurophysiology, National Hospital Marqués de Valdecilla, University of Cantabria, Santander, Spain.

The brain-stem involvement in Friedreich's ataxia (FA) was studied by using brain-stem auditory evoked potentials (BAEPs) and the blink reflex. Ten out of 18 patients had abnormal BAEPs, the main abnormality being complete absence of responses and disappearance of wave V. Combined degeneration of the peripheral and central acoustic pathways probably accounts for these findings. The blink reflex was abnormal in 50% of the cases. The outstanding abnormality was bilateral delay of late responses with normal early response, which could be correlated with the known pallor of the descending trigeminal tracts. In contrast with BAEP findings, blink reflex abnormalities did not correlate with either the age of patients or the severity and duration of the disease. These data suggest a difference in susceptibility to degeneration between the auditory system and neuronal system subserving the blink reflex. We conclude that systematic BAEP and blink reflex recording is useful in the electrophysiological evaluation of FA patients.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D008875	Middle Aged	An adult aged 45 - 64 years.	Middle Age
D001767	Blinking	Brief closing of the eyelids by involuntary normal periodic closing, as a protective measure, or by voluntary action.	Orbicularis Oculi Reflex,Reflex, Blink,Reflex, Corneal,Reflex, Orbicularis Oculi,Winking,Blink Reflexes,Corneal Reflexes,Orbicularis Oculi Reflexes,Blink Reflex,Reflexes, Blink,Reflexes, Orbicularis Oculi
D005260	Female		Females
D005621	Friedreich Ataxia	An autosomal recessive disease, usually of childhood onset, characterized pathologically by degeneration of the spinocerebellar tracts, posterior columns, and to a lesser extent the corticospinal tracts. Clinical manifestations include GAIT ATAXIA, pes cavus, speech impairment, lateral curvature of spine, rhythmic head tremor, kyphoscoliosis, congestive heart failure (secondary to a cardiomyopathy), and lower extremity weakness. Most forms of this condition are associated with a mutation in a gene on chromosome 9, at band q13, which codes for the mitochondrial protein frataxin. (From Adams et al., Principles of Neurology, 6th ed, p1081; N Engl J Med 1996 Oct 17;335(16):1169-75) The severity of Friedreich ataxia associated with expansion of GAA repeats in the first intron of the frataxin gene correlates with the number of trinucleotide repeats. (From Durr et al, N Engl J Med 1996 Oct 17;335(16):1169-75)	Friedreich Disease,Hereditary Spinal Sclerosis,Sclerosis, Hereditary Spinal,Friedreich Familial Ataxia,Friedreich Hereditary Ataxia,Friedreich Hereditary Spinal Ataxia,Friedreich Spinocerebellar Ataxia,Friedreich's Ataxia,Friedreich's Disease,Friedreich's Familial Ataxia,Friedreich's Hereditary Ataxia,Friedreich's Hereditary Spinal Ataxia,Hereditary Spinal Ataxia, Friedreich,Hereditary Spinal Ataxia, Friedreich's,Ataxia, Friedreich,Ataxia, Friedreich Familial,Ataxia, Friedreich Hereditary,Ataxia, Friedreich Spinocerebellar,Ataxia, Friedreich's,Ataxia, Friedreich's Familial,Ataxia, Friedreich's Hereditary,Ataxias, Friedreich,Ataxias, Friedreich's Hereditary,Disease, Friedreich,Disease, Friedreich's,Familial Ataxia, Friedreich,Familial Ataxia, Friedreich's,Friedreich Ataxias,Friedreich's Hereditary Ataxias,Friedreichs Familial Ataxia,Friedreichs Hereditary Ataxia,Hereditary Ataxia, Friedreich,Hereditary Ataxia, Friedreich's,Hereditary Ataxias, Friedreich's,Hereditary Spinal Scleroses,Scleroses, Hereditary Spinal,Spinal Scleroses, Hereditary,Spinal Sclerosis, Hereditary,Spinocerebellar Ataxia, Friedreich
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000293	Adolescent	A person 13 to 18 years of age.	Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths
D000328	Adult	A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available.	Adults
D000368	Aged	A person 65 years of age or older. For a person older than 79 years, AGED, 80 AND OVER is available.	Elderly
D016057	Evoked Potentials, Auditory, Brain Stem	Electrical waves in the CEREBRAL CORTEX generated by BRAIN STEM structures in response to auditory click stimuli. These are found to be abnormal in many patients with CEREBELLOPONTINE ANGLE lesions, MULTIPLE SCLEROSIS, or other DEMYELINATING DISEASES.	Acoustic Evoked Brain Stem Potentials,Auditory Brain Stem Evoked Responses,Brain Stem Auditory Evoked Potentials,Evoked Responses, Auditory, Brain Stem,Acoustic Evoked Brain Stem Potential,Acoustic Evoked Brainstem Potential,Acoustic Evoked Brainstem Potentials,Auditory Brain Stem Evoked Response,Auditory Brain Stem Response,Auditory Brain Stem Responses,Auditory Brainstem Evoked Response,Auditory Brainstem Evoked Responses,Auditory Brainstem Responses,Brain Stem Auditory Evoked Potential,Brainstem Auditory Evoked Potential,Brainstem Auditory Evoked Potentials,Evoked Potential, Auditory, Brainstem,Evoked Potentials, Auditory, Brainstem,Evoked Response, Auditory, Brain Stem,Evoked Response, Auditory, Brainstem,Evoked Responses, Auditory, Brainstem,Auditory Brainstem Response,Brainstem Response, Auditory,Brainstem Responses, Auditory,Response, Auditory Brainstem,Responses, Auditory Brainstem