Biomaterial Database

Neurological findings in patients with the fragile-X syndrome. 1985

P F Finelli, and S M Pueschel, and T Padre-Mendoza, and M M O'Brien

We report two brothers with previously unexplained mental retardation and seizures who had dysmorphic facial features, macro-orchidism, and a fragile site at the X chromosome. This recently described syndrome is the second most common chromosome aberration associated with mental retardation after Down's syndrome. In order to determine the prevalence of seizures and the frequency of specific neurological features, we studied a total of 17 patients with the fragile X syndrome. 41% had grand mal seizures; 41% had extensor plantar responses; 47% had hyperactive behaviour and 65% exhibited stereotypics; 59% had incoordination and 35% had blepharospasm. We emphasise the need for chromosome analysis of patients with unexplained mental retardation, specific phenotypic abnormalities, and large testes.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D008607	Intellectual Disability	Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)	Disability, Intellectual,Idiocy,Mental Retardation,Retardation, Mental,Deficiency, Mental,Intellectual Development Disorder,Mental Deficiency,Mental Retardation, Psychosocial,Deficiencies, Mental,Development Disorder, Intellectual,Development Disorders, Intellectual,Disabilities, Intellectual,Disorder, Intellectual Development,Disorders, Intellectual Development,Intellectual Development Disorders,Intellectual Disabilities,Mental Deficiencies,Mental Retardations, Psychosocial,Psychosocial Mental Retardation,Psychosocial Mental Retardations,Retardation, Psychosocial Mental,Retardations, Psychosocial Mental
D010375	Pedigree	The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.	Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D011187	Posture	The position or physical attitude of the body.	Postures
D012021	Reflex, Abnormal	An abnormal response to a stimulus applied to the sensory components of the nervous system. This may take the form of increased, decreased, or absent reflexes.	Hyperreflexia,Hyporeflexia,Abnormal Deep Tendon Reflex,Abnormal Reflex,Abnormal Reflexes,Bulbocavernosus Reflex, Decreased,Bulbocavernousus Reflex Absent,Hoffman's Reflex,Palmo-Mental Reflex,Reflex, Absent,Reflex, Acoustic, Abnormal,Reflex, Anal, Absent,Reflex, Anal, Decreased,Reflex, Ankle, Abnormal,Reflex, Ankle, Absent,Reflex, Ankle, Decreased,Reflex, Biceps, Abnormal,Reflex, Biceps, Absent,Reflex, Biceps, Decreased,Reflex, Corneal, Absent,Reflex, Corneal, Decreased,Reflex, Decreased,Reflex, Deep Tendon, Abnormal,Reflex, Deep Tendon, Absent,Reflex, Gag, Absent,Reflex, Gag, Decreased,Reflex, Knee, Abnormal,Reflex, Knee, Decreased,Reflex, Moro, Asymmetric,Reflex, Pendular,Reflex, Triceps, Abnormal,Reflex, Triceps, Absent,Reflex, Triceps, Decreased,Reflexes, Abnormal,Absent Reflex,Decreased Bulbocavernosus Reflex,Decreased Reflex,Palmo Mental Reflex,Pendular Reflex,Reflex Absent, Bulbocavernousus,Reflex, Decreased Bulbocavernosus,Reflex, Hoffman's,Reflex, Palmo-Mental
D004830	Epilepsy, Tonic-Clonic	A generalized seizure disorder characterized by recurrent major motor seizures. The initial brief tonic phase is marked by trunk flexion followed by diffuse extension of the trunk and extremities. The clonic phase features rhythmic flexor contractions of the trunk and limbs, pupillary dilation, elevations of blood pressure and pulse, urinary incontinence, and tongue biting. This is followed by a profound state of depressed consciousness (post-ictal state) which gradually improves over minutes to hours. The disorder may be cryptogenic, familial, or symptomatic (caused by an identified disease process). (From Adams et al., Principles of Neurology, 6th ed, p329)	Epilepsy, Grand Mal,Epilepsy, Major,Grand Mal Seizure Disorder,Major Motor Seizure Disorder,Seizure Disorder, Tonic Clonic,Convulsions, Grand Mal,Cryptogenic Tonic-Clonic Epilepsy,Epilepsy, Tonic-Clonic, Cryptogenic,Epilepsy, Tonic-Clonic, Familial,Epilepsy, Tonic-Clonic, Symptomatic,Familial Tonic-Clonic Epilepsy,Seizure Disorder, Grand Mal,Seizure Disorder, Major Motor,Symptomatic Tonic-Clonic Epilepsy,Tonic Clonic Convulsions,Tonic-Clonic Convulsion Disorder,Tonic-Clonic Convulsion Syndrome,Tonic-Clonic Seizure Disorder,Tonic-Clonic Seizure Syndrome,Convulsion Disorder, Tonic-Clonic,Convulsion Disorders, Tonic-Clonic,Convulsion Syndrome, Tonic-Clonic,Convulsion Syndromes, Tonic-Clonic,Convulsion, Grand Mal,Convulsion, Tonic Clonic,Convulsions, Tonic Clonic,Cryptogenic Tonic Clonic Epilepsy,Cryptogenic Tonic-Clonic Epilepsies,Disorder, Tonic-Clonic Convulsion,Disorder, Tonic-Clonic Seizure,Disorders, Tonic-Clonic Convulsion,Disorders, Tonic-Clonic Seizure,Epilepsies, Cryptogenic Tonic-Clonic,Epilepsies, Familial Tonic-Clonic,Epilepsies, Symptomatic Tonic-Clonic,Epilepsies, Tonic-Clonic,Epilepsy, Cryptogenic Tonic-Clonic,Epilepsy, Familial Tonic-Clonic,Epilepsy, Symptomatic Tonic-Clonic,Epilepsy, Tonic Clonic,Familial Tonic Clonic Epilepsy,Familial Tonic-Clonic Epilepsies,Grand Mal Convulsion,Grand Mal Convulsions,Grand Mal Epilepsy,Major Epilepsies,Major Epilepsy,Seizure Disorder, Tonic-Clonic,Seizure Disorders, Tonic-Clonic,Seizure Syndrome, Tonic-Clonic,Seizure Syndromes, Tonic-Clonic,Symptomatic Tonic Clonic Epilepsy,Symptomatic Tonic-Clonic Epilepsies,Syndrome, Tonic-Clonic Convulsion,Syndrome, Tonic-Clonic Seizure,Syndromes, Tonic-Clonic Convulsion,Syndromes, Tonic-Clonic Seizure,Tonic Clonic Convulsion,Tonic Clonic Convulsion Disorder,Tonic Clonic Convulsion Syndrome,Tonic Clonic Seizure Disorder,Tonic Clonic Seizure Syndrome,Tonic-Clonic Convulsion Disorders,Tonic-Clonic Convulsion Syndromes,Tonic-Clonic Epilepsies,Tonic-Clonic Epilepsies, Cryptogenic,Tonic-Clonic Epilepsies, Familial,Tonic-Clonic Epilepsies, Symptomatic,Tonic-Clonic Epilepsy,Tonic-Clonic Epilepsy, Cryptogenic,Tonic-Clonic Epilepsy, Familial,Tonic-Clonic Epilepsy, Symptomatic,Tonic-Clonic Seizure Disorders,Tonic-Clonic Seizure Syndromes
D005260	Female		Females
D005600	Fragile X Syndrome	A condition characterized genotypically by mutation of the distal end of the long arm of the X chromosome (at gene loci FRAXA or FRAXE) and phenotypically by cognitive impairment, hyperactivity, SEIZURES, language delay, and enlargement of the ears, head, and testes. INTELLECTUAL DISABILITY occurs in nearly all males and roughly 50% of females with the full mutation of FRAXA. (From Menkes, Textbook of Child Neurology, 5th ed, p226)	FRAXA Syndrome,FRAXE Syndrome,Martin-Bell Syndrome,Fra(X) Syndrome,Fragile X Mental Retardation Syndrome,Fragile X-F Mental Retardation Syndrome,Mar (X) Syndrome,Marker X Syndrome,Mental Retardation, X-Linked, Associated With Fragile Site Fraxe,Mental Retardation, X-Linked, Associated With Marxq28,X-Linked Mental Retardation and Macroorchidism,FRAXA Syndromes,FRAXE Syndromes,Fragile X Syndromes,Marker X Syndromes,Martin Bell Syndrome,Syndrome, FRAXA,Syndrome, FRAXE,Syndrome, Fragile X,Syndrome, Marker X,Syndrome, Martin-Bell,Syndromes, FRAXA,Syndromes, FRAXE,Syndromes, Fragile X,Syndromes, Marker X,X Linked Mental Retardation and Macroorchidism
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
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