Biomaterial Database

The hereditary ataxias. 1985

H Skre, and T S Haugstad, and K Berg

UI	MeSH Term	Description	Entries
D007564	Japan	A country in eastern Asia, island chain between the North Pacific Ocean and the Sea of Japan, east of the Korean Peninsula. The capital is Tokyo.	Bonin Islands
D007625	Kearns-Sayre Syndrome	A mitochondrial disorder featuring the triad of chronic progressive EXTERNAL OPHTHALMOPLEGIA, cardiomyopathy (CARDIOMYOPATHIES) with conduction block (HEART BLOCK), and RETINITIS PIGMENTOSA. Disease onset is in the first or second decade. Elevated CSF protein, sensorineural deafness, seizures, and pyramidal signs may also be present. Ragged-red fibers are found on muscle biopsy. (Adams et al., Principles of Neurology, 6th ed, p984)	Kearns Syndrome,CPEO with Myopathy,CPEO with Ragged Red Fibers,Chronic Progressive External Ophthalmoplegia with Myopathy,Cpeo With Ragged-Red Fibers,Kearn-Sayre Mitochondrial Cytopathy,Kearns Sayre Syndrome,Kearns' Syndrome,Kearns-Sayre Mitochondrial Cytopathy,Kearns-Sayre-Shy-Daroff Syndrome,Oculocraniosomatic Syndrome,Ophthalmoplegia Plus Syndrome,Ophthalmoplegia, Pigmentary Degeneration of Retina, and Cardiomyopathy,Ophthalmoplegia, Progressive External, With Ragged-Red Fibers,Ophthalmoplegia-Plus Syndrome,CPEO with Myopathies,Cytopathies, Kearns-Sayre Mitochondrial,Cytopathy, Kearn-Sayre Mitochondrial,Cytopathy, Kearns-Sayre Mitochondrial,Kearn Sayre Mitochondrial Cytopathy,Kearn Syndrome,Kearns Sayre Mitochondrial Cytopathy,Kearns Sayre Shy Daroff Syndrome,Kearns-Sayre Mitochondrial Cytopathies,Mitochondrial Cytopathies, Kearns-Sayre,Mitochondrial Cytopathy, Kearn-Sayre,Mitochondrial Cytopathy, Kearns-Sayre,Myopathies, CPEO with,Myopathy, CPEO with,Oculocraniosomatic Syndromes,Ophthalmoplegia Plus Syndromes,Ophthalmoplegia-Plus Syndromes,Sayre Syndrome, Kearns,Syndrome, Kearns,Syndrome, Kearns Sayre,Syndrome, Kearns',Syndrome, Kearns-Sayre,Syndrome, Kearns-Sayre-Shy-Daroff,Syndrome, Oculocraniosomatic,Syndrome, Ophthalmoplegia Plus,Syndrome, Ophthalmoplegia-Plus,Syndromes, Ophthalmoplegia-Plus
D007888	Leigh Disease	A group of metabolic disorders primarily of infancy characterized by the subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, dysphagia, and lactic acidosis. Pathological features include spongy degeneration of the neuropile of the basal ganglia, thalamus, brain stem, and spinal cord. Patterns of inheritance include X-linked recessive, autosomal recessive, and mitochondrial. Leigh disease has been associated with mutations in genes for the PYRUVATE DEHYDROGENASE COMPLEX; CYTOCHROME-C OXIDASE; ATP synthase subunit 6; and subunits of mitochondrial complex I. (From Menkes, Textbook of Child Neurology, 5th ed, p850).	Encephalomyelitis, Subacute Necrotizing,Encephalopathy, Subacute Necrotizing,Encephalomyelopathy, Subacute Necrotizing,Encephalopathy, Subacute Necrotizing, Infantile,Encephalopathy, Subacute Necrotizing, Juvenile,Infantile Leigh Disease,Infantile Subacute Necrotizing Encephalopathy,Juvenile Leigh Disease,Juvenile Subacute Necrotizing Encephalopathy,Leigh Disease, Infantile,Leigh Disease, Juvenile,Leigh Syndrome,Leigh's Disease,Subacute Necrotizing Encephalomyelitis, Infantile,Subacute Necrotizing Encephalomyelopathy,Subacute Necrotizing Encephalopathy,Subacute Necrotizing Encephalopathy, Infantile,Subacute Necrotizing Encephalopathy, Juvenile,Disease, Leigh's,Encephalomyelitides, Subacute Necrotizing,Encephalomyelopathies, Subacute Necrotizing,Encephalopathies, Subacute Necrotizing,Leighs Disease,Necrotizing Encephalomyelitides, Subacute,Necrotizing Encephalomyelitis, Subacute,Necrotizing Encephalomyelopathies, Subacute,Necrotizing Encephalomyelopathy, Subacute,Necrotizing Encephalopathies, Subacute,Necrotizing Encephalopathy, Subacute,Subacute Necrotizing Encephalomyelitides,Subacute Necrotizing Encephalomyelitis,Subacute Necrotizing Encephalomyelopathies,Subacute Necrotizing Encephalopathies
D008297	Male		Males
D008875	Middle Aged	An adult aged 45 - 64 years.	Middle Age
D009128	Muscle Spasticity	A form of muscle hypertonia associated with upper MOTOR NEURON DISEASE. Resistance to passive stretch of a spastic muscle results in minimal initial resistance (a "free interval") followed by an incremental increase in muscle tone. Tone increases in proportion to the velocity of stretch. Spasticity is usually accompanied by HYPERREFLEXIA and variable degrees of MUSCLE WEAKNESS. (From Adams et al., Principles of Neurology, 6th ed, p54)	Clasp-Knife Spasticity,Spastic,Clasp Knife Spasticity,Spasticity, Clasp-Knife,Spasticity, Muscle
D009664	Norway	A country located in northern Europe, bordering the North Sea and the Atlantic Ocean, west of Sweden. The capital is Oslo.	Kingdom of Norway
D009847	Olivary Nucleus	A brainstem nuclear complex. in the hindbrain, also referred to as the olivary body. The olivary nuclear complex is a part of the MEDULLA OBLONGATA and the PONTINE TEGMENTUM. It is involved with motor control and is a major source of sensory input to the CEREBELLUM.	Basal Nucleus, Olivary,Nucleus Basalis, Olivary,Olivary Body,Olivary Complex,Olivary Nuclei,Complex, Olivary,Nucleus, Olivary,Nucleus, Olivary Basal,Olivary Basal Nucleus,Olivary Bodies
D010264	Paraplegia	Severe or complete loss of motor function in the lower extremities and lower portions of the trunk. This condition is most often associated with SPINAL CORD DISEASES, although BRAIN DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; NEUROMUSCULAR DISEASES; and MUSCULAR DISEASES may also cause bilateral leg weakness.	Paralysis, Lower Extremities,Paraplegia, Spastic,Spastic Paraplegia,Paralysis, Legs,Paralysis, Lower Limbs,Paraplegia, Ataxic,Paraplegia, Cerebral,Paraplegia, Flaccid,Paraplegia, Spinal,Ataxic Paraplegia,Ataxic Paraplegias,Cerebral Paraplegia,Cerebral Paraplegias,Flaccid Paraplegia,Flaccid Paraplegias,Paraplegias,Paraplegias, Ataxic,Paraplegias, Cerebral,Paraplegias, Flaccid,Paraplegias, Spastic,Paraplegias, Spinal,Spastic Paraplegias,Spinal Paraplegia,Spinal Paraplegias
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