Biomaterial Database

Spinocerebellar degenerations. 2011

Susan L Perlman

David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA. sperlman@ucla.edu

The spinocerebellar ataxias (SCA) are a large group of inherited disorders affecting the cerebellum and its afferent and efferent pathways. Their hallmark symptom is slowly progressive, symmetrical, midline, and appendicular ataxia. Some may also have associated hyperkinetic movements (chorea, dystonia, myoclonus, postural/action tremor, restless legs, rubral tremor, tics), which may aid in differential diagnosis and provide treatable targets to improve performance and quality of life in these progressive, incurable conditions. The typical dominant ataxias with associated hyperkinetic movements are SCA1-3, 6-8, 12, 14, 15, 17, 19-21, and 27. The common recessive ataxias with associated hyperkinetic movements are ataxia telangiectasia and Friedreich's ataxia. Fragile X tremor-ataxia syndrome (FXTAS) and multiple-system atrophy (a sporadic ataxia which is felt to have a genetic substrate) also have hyperkinetic features. A careful work-up should be done in all apparently sporadic cases, to rule out acquired causes of ataxia, some of which can cause hyperkinetic movements in addition to ataxia. Some testing should be done even in individuals with a confirmed genetic cause, as the presence of a secondary factor (nutritional deficiency, thyroid dysfunction) can contribute to the phenotype.

UI	MeSH Term	Description	Entries
D008279	Magnetic Resonance Imaging	Non-invasive method of demonstrating internal anatomy based on the principle that atomic nuclei in a strong magnetic field absorb pulses of radiofrequency energy and emit them as radiowaves which can be reconstructed into computerized images. The concept includes proton spin tomographic techniques.	Chemical Shift Imaging,MR Tomography,MRI Scans,MRI, Functional,Magnetic Resonance Image,Magnetic Resonance Imaging, Functional,Magnetization Transfer Contrast Imaging,NMR Imaging,NMR Tomography,Tomography, NMR,Tomography, Proton Spin,fMRI,Functional Magnetic Resonance Imaging,Imaging, Chemical Shift,Proton Spin Tomography,Spin Echo Imaging,Steady-State Free Precession MRI,Tomography, MR,Zeugmatography,Chemical Shift Imagings,Echo Imaging, Spin,Echo Imagings, Spin,Functional MRI,Functional MRIs,Image, Magnetic Resonance,Imaging, Magnetic Resonance,Imaging, NMR,Imaging, Spin Echo,Imagings, Chemical Shift,Imagings, Spin Echo,MRI Scan,MRIs, Functional,Magnetic Resonance Images,Resonance Image, Magnetic,Scan, MRI,Scans, MRI,Shift Imaging, Chemical,Shift Imagings, Chemical,Spin Echo Imagings,Steady State Free Precession MRI
D009419	Nerve Tissue Proteins		Proteins, Nerve Tissue,Tissue Proteins, Nerve
D010641	Phenotype	The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.	Phenotypes
D002531	Cerebellum	The part of brain that lies behind the BRAIN STEM in the posterior base of skull (CRANIAL FOSSA, POSTERIOR). It is also known as the "little brain" with convolutions similar to those of CEREBRAL CORTEX, inner white matter, and deep cerebellar nuclei. Its function is to coordinate voluntary movements, maintain balance, and learn motor skills.	Cerebella,Corpus Cerebelli,Parencephalon,Cerebellums,Parencephalons
D003937	Diagnosis, Differential	Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures.	Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001259	Ataxia	Impairment of the ability to perform smoothly coordinated voluntary movements. This condition may affect the limbs, trunk, eyes, pharynx, larynx, and other structures. Ataxia may result from impaired sensory or motor function. Sensory ataxia may result from posterior column injury or PERIPHERAL NERVE DISEASES. Motor ataxia may be associated with CEREBELLAR DISEASES; CEREBRAL CORTEX diseases; THALAMIC DISEASES; BASAL GANGLIA DISEASES; injury to the RED NUCLEUS; and other conditions.	Coordination Impairment,Dyssynergia,Incoordination,Ataxia, Appendicular,Ataxia, Limb,Ataxia, Motor,Ataxia, Sensory,Ataxia, Truncal,Ataxy,Dyscoordination,Lack of Coordination,Tremor, Rubral,Appendicular Ataxia,Appendicular Ataxias,Ataxias,Ataxias, Appendicular,Ataxias, Limb,Ataxias, Motor,Ataxias, Sensory,Ataxias, Truncal,Coordination Impairments,Coordination Lack,Impairment, Coordination,Impairments, Coordination,Incoordinations,Limb Ataxia,Limb Ataxias,Motor Ataxia,Motor Ataxias,Rubral Tremor,Rubral Tremors,Sensory Ataxia,Sensory Ataxias,Tremors, Rubral,Truncal Ataxia,Truncal Ataxias
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