Biomaterial Database

Neuropathology of myoclonus epilepsy associated with ragged-red fibers (Fukuhara's disease). 1988

S Takeda, and K Wakabayashi, and E Ohama, and F Ikuta

Department of Pathology, Niigata University, Japan.

The post-mortem findings are reported of two patients with myoclonus epilepsy associated with ragged-red fibers (MERRF, Fukuhara's disease), whose clinical findings have been described in detail previously. In addition to the mitochondrial myopathy, both patients had consistent lesions in the central and peripheral nervous systems: (1) degeneration of the dentatorubral and pallidoluysian systems, (2) spinal cord lesions resembling Friedreich's ataxia, and (3) degeneration of the substantia nigra, cerebellar cortex, inferior olivary nucleus, locus ceruleus, gracile and cuneate nuclei, and the pontine tegmentum. The nature and distribution of the lesions are different not only from the other mitochondrial encephalomyopathies but also from other known diseases. It is concluded that MERRF is a disease entity.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D008931	Mitochondria, Muscle	Mitochondria of skeletal and smooth muscle. It does not include myocardial mitochondria for which MITOCHONDRIA, HEART is available.	Sarcosomes,Mitochondrion, Muscle,Muscle Mitochondria,Muscle Mitochondrion,Sarcosome
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
D001921	Brain	The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM.	Encephalon
D002525	Cerebellar Cortex	The superficial GRAY MATTER of the CEREBELLUM. It consists of two main layers, the stratum moleculare and the stratum granulosum.	Cortex Cerebelli,Cerebelli, Cortex,Cerebellus, Cortex,Cortex Cerebellus,Cortex, Cerebellar
D004831	Epilepsies, Myoclonic	A clinically diverse group of epilepsy syndromes characterized either by myoclonic seizures or by myoclonus in association with other seizure types. Myoclonic epilepsy syndromes are divided into three subtypes based on etiology: familial, cryptogenic, and symptomatic.	Idiopathic Myoclonic Epilepsy,Myoclonic Absence Epilepsy,Myoclonic Encephalopathy,Myoclonic Epilepsy,Symptomatic Myoclonic Epilepsy,Benign Infantile Myoclonic Epilepsy,Cryptogenic Myoclonic Epilepsy,Doose Syndrome,Dravet Syndrome,Early Childhood Epilepsy, Myoclonic,Early Childhood, Myoclonic Epilepsy,Encephalopathy, Myoclonic,Epilepsy, Early Childhood, Myoclonic,Epilepsy, Myoclonic, Early Childhood,Epilepsy, Myoclonic, Infantile,Epilepsy, Myoclonic, Infantile, Benign,Epilepsy, Myoclonic, Infantile, Severe,Epilepsy, Myoclonus,Infantile Severe Myoclonic Epilepsy,Myoclonic Astatic Epilepsy,Myoclonic Epilepsy, Benign Infantile,Myoclonic Epilepsy, Early Childhood,Myoclonic Epilepsy, Infantile,Myoclonic Epilepsy, Infantile, Benign,Myoclonic Epilepsy, Infantile, Severe,Myoclonic Epilepsy, Severe Infantile,Myoclonic Epilepsy, Severe, Of Infancy,Myoclonic Seizure Disorder,Severe Infantile Myoclonic Epilepsy,Severe Myoclonic Epilepsy Of Infancy,Severe Myoclonic Epilepsy, Infantile,Astatic Epilepsies, Myoclonic,Astatic Epilepsy, Myoclonic,Cryptogenic Myoclonic Epilepsies,Dravet Syndromes,Encephalopathies, Myoclonic,Epilepsies, Cryptogenic Myoclonic,Epilepsies, Idiopathic Myoclonic,Epilepsies, Infantile Myoclonic,Epilepsies, Myoclonic Absence,Epilepsies, Myoclonic Astatic,Epilepsies, Symptomatic Myoclonic,Epilepsy, Cryptogenic Myoclonic,Epilepsy, Idiopathic Myoclonic,Epilepsy, Infantile Myoclonic,Epilepsy, Myoclonic,Epilepsy, Myoclonic Absence,Epilepsy, Myoclonic Astatic,Epilepsy, Symptomatic Myoclonic,Idiopathic Myoclonic Epilepsies,Infantile Myoclonic Epilepsies,Infantile Myoclonic Epilepsy,Myoclonic Absence Epilepsies,Myoclonic Astatic Epilepsies,Myoclonic Encephalopathies,Myoclonic Epilepsies,Myoclonic Epilepsies, Cryptogenic,Myoclonic Epilepsies, Idiopathic,Myoclonic Epilepsies, Infantile,Myoclonic Epilepsies, Symptomatic,Myoclonic Epilepsy, Cryptogenic,Myoclonic Epilepsy, Idiopathic,Myoclonic Epilepsy, Symptomatic,Myoclonic Seizure Disorders,Myoclonus Epilepsies,Myoclonus Epilepsy,Seizure Disorder, Myoclonic,Seizure Disorders, Myoclonic,Symptomatic Myoclonic Epilepsies
D005260	Female		Females
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
D013132	Spinocerebellar Degenerations	A heterogenous group of degenerative syndromes marked by progressive cerebellar dysfunction either in isolation or combined with other neurologic manifestations. Sporadic and inherited subtypes occur. Inheritance patterns include autosomal dominant, autosomal recessive, and X-linked.	Ataxias, Hereditary,Cerebellar Ataxia, Early Onset,Cerebellar Ataxia, Late Onset,Cerebellar Degenerations, Primary,Corticostriatal-Spinal Degeneration,Marie Cerebellar Ataxia,Marinesco-Sjogren Syndrome,Spinocerebellar Degeneration,Early Onset Cerebellar Ataxia,Familial Spinocerebellar Degenerations,Garland-Moorhouse Syndrome,Hereditary Oligophrenic Cerebello-Lental Degeneration,Hereditary Spinocerebellar Degenerations,Inherited Spinocerebellar Degenerations,Late Onset Cerebellar Ataxia,Marie's Cerebellar Ataxia,Marinesco-Garland Syndrome,Marinesco-Sjogren Syndrome-Hypergonadotrophic Hypogonadism,Marinesco-Sjogren Syndrome-Myopathy,Marinesco-Sjogren-Garland Syndrome,Marinesco-Sjögren Syndrome,Spino Cerebellar Degenerations,Spino-Cerebellar Degenerations,Spinocerebellar Diseases,Ataxia, Hereditary,Cerebellar Ataxia, Marie,Cerebellar Ataxia, Marie's,Cerebellar Degeneration, Primary,Corticostriatal Spinal Degeneration,Corticostriatal-Spinal Degenerations,Degeneration, Corticostriatal-Spinal,Degeneration, Familial Spinocerebellar,Degeneration, Hereditary Spinocerebellar,Degeneration, Inherited Spinocerebellar,Degeneration, Primary Cerebellar,Degeneration, Spino Cerebellar,Degeneration, Spino-Cerebellar,Degeneration, Spinocerebellar,Degenerations, Corticostriatal-Spinal,Degenerations, Familial Spinocerebellar,Degenerations, Hereditary Spinocerebellar,Degenerations, Inherited Spinocerebellar,Degenerations, Primary Cerebellar,Degenerations, Spino Cerebellar,Degenerations, Spinocerebellar,Familial Spinocerebellar Degeneration,Garland Moorhouse Syndrome,Hereditary Ataxia,Hereditary Ataxias,Hereditary Oligophrenic Cerebello Lental Degeneration,Hereditary Spinocerebellar Degeneration,Hypogonadism, Marinesco-Sjogren Syndrome-Hypergonadotrophic,Inherited Spinocerebellar Degeneration,Marinesco Garland Syndrome,Marinesco Sjogren Garland Syndrome,Marinesco Sjogren Syndrome,Marinesco Sjogren Syndrome Hypergonadotrophic Hypogonadism,Marinesco Sjogren Syndrome Myopathy,Marinesco Sjögren Syndrome,Primary Cerebellar Degeneration,Primary Cerebellar Degenerations,Spino Cerebellar Degeneration,Spino-Cerebellar Degeneration,Spinocerebellar Degeneration, Familial,Spinocerebellar Degeneration, Hereditary,Spinocerebellar Degeneration, Inherited,Spinocerebellar Degenerations, Familial,Spinocerebellar Degenerations, Hereditary,Spinocerebellar Degenerations, Inherited,Spinocerebellar Disease,Syndrome, Garland-Moorhouse,Syndrome, Marinesco-Garland,Syndrome, Marinesco-Sjogren,Syndrome, Marinesco-Sjogren-Garland,Syndrome, Marinesco-Sjögren,Syndrome-Hypergonadotrophic Hypogonadism, Marinesco-Sjogren,Syndrome-Myopathy, Marinesco-Sjogren