Spinocerebellar Ataxia 11 (SCA11)

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Disease Ontology 12 DOID:0050961 OMIM 58 604432 MeSH 45 D020754 ICD10 via Orphanet 35 G11.8 UMLS via Orphanet 75 C1858351

Orphanet 60 ORPHA98767 MedGen 43 C1858351 SNOMED-CT via HPO 70 111533001 14648003 228158008 230233000 263681008 288939007 302226006 386033004 40739000 42658009 563001 8011004 81756001 86854008 95646004 more UMLS 74 C1858351

NIH Rare Diseases : ⁵⁴ Spinocerebellar ataxia type 11 (SCA11) is characterized by progressive cerebellar ataxia (difficulty walking and balance) and abnormal eye signs (jerky pursuit, horizontal and vertical movements (nystagmus), pyramidal features (increased muscular tonus, increased reflexes and an abnormal reflex known as Babinski sign and inability to make to perform fine movements), peripheral neuropathy with numbness, weakness or pain in the feet or hands or other places of the body and dystonia. It is a very rare disease and very few patients have been reported to date. In them, age of onset ranged from the early teens to the second decade of life and life span was normal. Diagnosis is based on signs and symptoms and with a genetic exam showing an alteration (mutation) in the TTBK2 gene. It is inherited in an autosomal dominant manner. Treatment may include speech and language therapy for talking and swallowing problems, occupational therapy, including home adaptations, physiotherapy and use of assistive walking devices and ankle-foot orthotics (AFOs) for those with neuropathy.

MalaCards based summary : Spinocerebellar Ataxia 11, also known as spinocerebellar ataxia type 11, is related to autosomal dominant cerebellar ataxia and spinocerebellar ataxia, autosomal recessive 11. An important gene associated with Spinocerebellar Ataxia 11 is TTBK2 (Tau Tubulin Kinase 2), and among its related pathways/superpathways is Organelle biogenesis and maintenance. Affiliated tissues include eye, spinal cord and cerebellum, and related phenotypes are dysarthria and dysphagia

Disease Ontology : ¹² An autosomal dominant cerebellar ataxia that is characterized by ataxia, nystagmus, pyramidal abonormalities and peripheral neuropathy, has material basis in mutation in the TTBK2 gene.

UniProtKB/Swiss-Prot : ⁷⁶ Spinocerebellar ataxia 11: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA11 is an autosomal dominant cerebellar ataxia (ADCA). It is a relatively benign, late- onset, slowly progressive neurologic disorder.

Description from OMIM: 604432

GeneReviews: NBK1757

Clinical features from OMIM:

604432

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased viability	GR00107-A-1	9.55	PRKCG
2	Decreased viability	GR00221-A-1	9.55	PRKCG SYT14
3	Decreased viability	GR00221-A-2	9.55	PRKCG SYT14 TTBK1 TTBK2
4	Decreased viability	GR00221-A-3	9.55	PRKCG TTBK1
5	Decreased viability	GR00221-A-4	9.55	SYT14 TTBK1
6	Decreased viability	GR00342-S-1	9.55	PRKCG
7	Decreased viability	GR00342-S-2	9.55	PRKCG
8	Decreased viability	GR00342-S-3	9.55	PRKCG
9	Decreased viability	GR00402-S-2	9.55	PRKCG SYT14 TTBK2
10	Decreased substrate adherent cell growth	GR00193-A-1	9.43	PRKCG TTBK1 TTBK2
11	Decreased substrate adherent cell growth	GR00193-A-3	9.43	TTBK2
12	Decreased substrate adherent cell growth	GR00193-A-4	9.43	TTBK1 TTBK2

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Search GEO for disease gene expression data for Spinocerebellar Ataxia 11.