Biomaterial Database

Spinocerebellar ataxia type 23 (SCA23): a review. 2021

Fan Wu, and Xu Wang, and Xiaohan Li, and Huidi Teng, and Tao Tian, and Jing Bai

Department of Neurology, The First Hospital of Jilin University, Changchun, 130021, China.

Spinocerebellar ataxias (SCAs), formerly known as autosomal dominant cerebellar ataxias (ADCAs), are a group of hereditary heterogeneous neurodegenerative diseases. Gait, progressive ataxia, dysarthria, and eye movement disorder are common symptoms of spinocerebellar ataxias. Other symptoms include peripheral neuropathy, cognitive impairment, psychosis, and seizures. Patients may lose their lives due to out of coordinated respiration and/or swallowing. Neurological signs cover pyramidal or extrapyramidal signs, spasm, ophthalmoplegia, hyperactive deep tendon reflexes, and so on. Different subtypes of SCAs present various clinical features. Spinocerebellar ataxia type 23 (SCA23), one subtype of the SCA family, is characterized by mutant prodynorphin (PDYN) gene. Based on literatures, this review details a series of SCA23, to improve a whole understanding of clinicians and point out the potential research direction of this dysfunction, including a history, pathophysiological mechanism, diagnosis and differential diagnosis, epigenetics, penetrance and prevalence, genetic counseling, treatment and prognosis.

UI	MeSH Term	Description	Entries
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
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
D015995	Prevalence	The total number of cases of a given disease in a specified population at a designated time. It is differentiated from INCIDENCE, which refers to the number of new cases in the population at a given time.	Period Prevalence,Point Prevalence,Period Prevalences,Point Prevalences,Prevalence, Period,Prevalence, Point,Prevalences
D020754	Spinocerebellar Ataxias	A group of predominately late-onset, cerebellar ataxias which have been divided into multiple subtypes based on clinical features and genetic mapping. Progressive ataxia is a central feature of these conditions, and in certain subtypes POLYNEUROPATHY; DYSARTHRIA; visual loss; and other disorders may develop. (From Joynt, Clinical Neurology, 1997, Ch65, pp 12-17; J Neuropathol Exp Neurol 1998 Jun;57(6):531-43)	Spinocerebellar Ataxia Type 1,Spinocerebellar Ataxia Type 2,Spinocerebellar Ataxia Type 4,Spinocerebellar Ataxia Type 5,Spinocerebellar Ataxia Type 6,Spinocerebellar Ataxia Type 7,Spinocerebellar Atrophies,Autosomal Dominant Cerebellar Ataxia, Type II,Cerebellar Degeneration with Slow Eye Movements,Cerebelloparenchymal Disorder I,Dominantly-Inherited Spinocerebellar Ataxias,Menzel Type OPCA,OPCA with Macular Degeneration and External Ophthalmoplegia,OPCA with Retinal Degeneration,Olivopontocerebellar Atrophy 2,Olivopontocerebellar Atrophy I,Olivopontocerebellar Atrophy II,Olivopontocerebellar Atrophy III,Olivopontocerebellar Atrophy IV,Olivopontocerebellar Atrophy, Holguin Type,SCA1,Schut-Haymaker Type OPCA,Spinocerebellar Ataxia 1,Spinocerebellar Ataxia 2,Spinocerebellar Ataxia 4,Spinocerebellar Ataxia 5,Spinocerebellar Ataxia 6,Spinocerebellar Ataxia 7,Spinocerebellar Ataxia with Slow Eye Movements,Spinocerebellar Ataxia, Autosomal Dominant, with Sensory Axonal Neuropathy,Spinocerebellar Ataxia, Cuban Type,Spinocerebellar Ataxia-1,Spinocerebellar Ataxia-2,Spinocerebellar Ataxia-4,Spinocerebellar Ataxia-5,Spinocerebellar Ataxia-6,Spinocerebellar Ataxia-7,Spinocerebellar Ataxias, Dominantly-Inherited,Spinocerebellar Atrophy 2,Spinocerebellar Atrophy I,Spinocerebellar Atrophy II,Spinocerebellar Degeneration with Slow Eye Movements,Type 1 Spinocerebellar Ataxia,Type 2 Spinocerebellar Ataxia,Type 4 Spinocerebellar Ataxia,Type 5 Spinocerebellar Ataxia,Type 6 Spinocerebellar Ataxia,Type 7 Spinocerebellar Ataxia,Wadia Swami Syndrome,Wadia-Swami Syndrome,Ataxia 1, Spinocerebellar,Ataxia 2, Spinocerebellar,Ataxia 4, Spinocerebellar,Ataxia 5, Spinocerebellar,Ataxia 6, Spinocerebellar,Ataxia 7, Spinocerebellar,Ataxia, Dominantly-Inherited Spinocerebellar,Ataxia, Spinocerebellar,Ataxias, Dominantly-Inherited Spinocerebellar,Ataxias, Spinocerebellar,Atrophies, Spinocerebellar,Atrophy 2, Olivopontocerebellar,Atrophy 2, Spinocerebellar,Atrophy 2s, Olivopontocerebellar,Atrophy 2s, Spinocerebellar,Atrophy I, Olivopontocerebellar,Atrophy I, Spinocerebellar,Atrophy II, Olivopontocerebellar,Atrophy III, Olivopontocerebellar,Atrophy IIs, Spinocerebellar,Atrophy IV, Olivopontocerebellar,Atrophy IVs, Olivopontocerebellar,Atrophy, Spinocerebellar,Cerebelloparenchymal Disorder Is,Dominantly Inherited Spinocerebellar Ataxias,Dominantly-Inherited Spinocerebellar Ataxia,OPCA, Menzel Type,OPCA, Schut-Haymaker Type,Olivopontocerebellar Atrophy 2s,Olivopontocerebellar Atrophy IIIs,Olivopontocerebellar Atrophy IIs,Olivopontocerebellar Atrophy IVs,Olivopontocerebellar Atrophy Is,SCA1s,Schut Haymaker Type OPCA,Spinocerebellar Ataxia,Spinocerebellar Ataxia 1s,Spinocerebellar Ataxia 2s,Spinocerebellar Ataxia 4s,Spinocerebellar Ataxia 5s,Spinocerebellar Ataxia 6s,Spinocerebellar Ataxia 7s,Spinocerebellar Ataxia, Dominantly-Inherited,Spinocerebellar Ataxias, Dominantly Inherited,Spinocerebellar Atrophy,Spinocerebellar Atrophy 2s,Spinocerebellar Atrophy IIs,Spinocerebellar Atrophy Is,Swami Syndrome, Wadia,Syndrome, Wadia Swami,Syndrome, Wadia-Swami