Spinocerebellar ataxia type 7

Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal dominant cerebellar ataxia type 2 (ADCA2; see this term), is a neurodegenerative disorder characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness.

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Narrow down the case reports

Total: 29 (papers)

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Matched Phenotype Gene Mutation MeSH

Rank (Similarity)	PMID (PMCID)
1 (17.5%)	15122543	[Spinocerebellar ataxia type 7: clinical and molecular genetic analysis of a Mexican family]. Rolon Lacarriere O, Rasmussen Almaraz A, Hernandez Cruz H, Carranza del Rio J, Gonzalez Cruz M, Gutierrez Moctezuma J. Rev Neurol. 2004;38(8):736-40. [ Show abstract ] [ Hide abstract ]
		Visual impairment Spasticity
		ATXN7

		Adult Ataxia, Spinocerebellar Ataxin-7 Child Child, Preschool Disease Progression Females Genes, Dominant Homo sapiens Male Mexico Middle Aged Nerve Tissue Proteins Phenotype Trinucleotide Repeat Expansion
2 (4.0%)	29248324	Lethal form of spinocerebellar ataxia type 7 with early onset in childhood. Gousse G, Patural H, Touraine R, Chabrier S, Rolland E, Antoine JC, Perrin L. Arch Pediatr. 2018;25(1):42-44. [ Show abstract ] [ Hide abstract ]
		Gait disturbance
		ATXN7

		Ataxia, Spinocerebellar Ataxin-7 Brain Fatal Outcome Homo sapiens Infant Magnetic Resonance Imaging Male Trinucleotide Repeat Expansion
2 (4.0%)	27632585	RETINAL MANIFESTATIONS OF SPINOCEREBELLAR ATAXIA TYPE 7 IN TWO CONSECUTIVE GENERATIONS. Yip G, Henao M, Huang LL. Retin Cases Brief Rep. 2017;11 Suppl 1:S86-S89. [ Show abstract ] [ Hide abstract ]
		Retinopathy
		ATXN7

		Adult Ataxia, Spinocerebellar Child, Preschool Failure to Thrive Females Homo sapiens Low Vision Male Retinal Diseases
2 (4.0%)	27044733 (5402823)	Spinocerebellar ataxia type-7: Report of a family in Northwest Nigeria. Alkali NH, Bwala SA, Alimi SA, Oyakhire SI. Ann Afr Med. 2016;15(2):87-90. [ Show abstract ] [ Hide abstract ]
		Visual loss
		ATXN7

		Ataxia, Spinocerebellar Ataxin-7 Genotype Homo sapiens Magnetic Resonance Imaging Male Nigeria Polymerase Chain Reaction RNA, Messenger Trinucleotide Repeat Expansion
2 (4.0%)	26584329 (4871792)	MULTIMODAL IMAGING OF A FAMILY WITH SPINOCEREBELLAR ATAXIA TYPE 7 DEMONSTRATING PHENOTYPIC VARIATION AND PROGRESSION OF RETINAL DEGENERATION. Levinson JD, Yan J, Lambert SR, Shankar SP. Retin Cases Brief Rep. 2016;10(3):267-72. [ Show abstract ] [ Hide abstract ]
		Optic disc pallor
		ATXN7 SON

		Adult Ataxia, Spinocerebellar Child Disease Progression Females Homo sapiens Male Multimodal Imaging Retinal Degeneration Retrospective Studies
2 (4.0%)	25664129	Clinical and molecular effect on offspring of a marriage of consanguineous spinocerebellar ataxia type 7 mutation carriers: a family case report. Magana JJ, Tapia-Guerrero YS, Velazquez-Perez L, Cruz-Marino T, Cerecedo-Zapata CM, Gomez R, Murillo-Melo NM, Gonzalez-Pina R, Hernandez-Hernandez O, Cisneros B. Int J Clin Exp Med. 2014;7(12):5896-903. [ Show abstract ] [ Hide abstract ]
		Ataxia
		ATXN7
		c\|SUB\|G\|-3145\|A

2 (4.0%)	25643591	Somatic instability of expanded CAG repeats of ATXN7 in Japanese patients with spinocerebellar ataxia type 7. Katagiri S, Hayashi T, Takeuchi T, Yamada H, Gekka T, Kawabe K, Kurita A, Tsuneoka H. Doc Ophthalmol. 2015;130(3):189-95. [ Show abstract ] [ Hide abstract ]
		Macular degeneration
		ATXN7

		Asians Ataxia, Spinocerebellar Ataxin-7 DNA Electroretinography Females Genomic Instability Homo sapiens Japan Magnetic Resonance Imaging Middle Aged Mosaicism Nerve Tissue Proteins Phenotype Polymerase Chain Reaction Retinal Cone Retinal Degeneration Trinucleotide Repeats Visual Acuity Young Adult
2 (4.0%)	25506882	Massive CAG repeat expansion and somatic instability in maternally transmitted infantile spinocerebellar ataxia type 7. Trang H, Stanley SY, Thorner P, Faghfoury H, Schulze A, Hawkins C, Pearson CE, Yoon G. JAMA Neurol. 2015;72(2):219-23. [ Show abstract ] [ Hide abstract ]
		Focal segmental glomerulosclerosis
		ATXN7

		Adult Ataxia, Spinocerebellar Child, Preschool Fatal Outcome Females Genomic Instability Homo sapiens Male Trinucleotide Repeat Expansion
2 (4.0%)	24339617 (3841638)	Spinocerebellar ataxia type 7: Report of an Indian family. Wali GM. Ann Indian Acad Neurol. 2013;16(4):708-11. [ Show abstract ] [ Hide abstract ]
		Retinal degeneration
		ATXN7


2 (4.0%)	23871770	Caution regarding the interpretation of homoallelism in polyglutamine multiplex assays: a recommendation for confirmatory testing of homozygous alleles. Smith DC, Esterhuizen A, Greenberg J. J Mol Diagn. 2013;15(5):706-9. [ Show abstract ] [ Hide abstract ]
		Ataxia


		Alleles Ataxia, Spinocerebellar Ataxin-7 Homo sapiens Homozygote Male Molecular Typing Nerve Tissue Proteins Peptides Polymerase Chain Reaction Sequence Analysis, DNA Trinucleotide Repeat Expansion

Phenotype(s) retrieved from Orphanet

Total: 32

HPO ID	Term	Frequency
HP:0001251	Ataxia	Obligate (100%)
HP:0001260	Dysarthria	Obligate (100%)
HP:0001310	Dysmetria	Obligate (100%)
HP:0001347	Hyperreflexia	Obligate (100%)
HP:0000548	Cone/cone-rod dystrophy	Very frequent (99-80%)
HP:0002015	Dysphagia	Very frequent (99-80%)
HP:0000572	Visual loss	Frequent (79-30%)
HP:0000597	Ophthalmoparesis	Frequent (79-30%)
HP:0000602	Ophthalmoplegia	Frequent (79-30%)
HP:0000639	Nystagmus	Frequent (79-30%)
HP:0001098	Abnormal fundus morphology	Frequent (79-30%)
HP:0001263	Global developmental delay	Frequent (79-30%)
HP:0001268	Mental deterioration	Frequent (79-30%)
HP:0001270	Motor delay	Frequent (79-30%)
HP:0001272	Cerebellar atrophy	Frequent (79-30%)
HP:0001319	Neonatal hypotonia	Frequent (79-30%)
HP:0001324	Muscle weakness	Frequent (79-30%)
HP:0001508	Failure to thrive	Frequent (79-30%)
HP:0001635	Congestive heart failure	Frequent (79-30%)
HP:0002059	Cerebral atrophy	Frequent (79-30%)
HP:0002075	Dysdiadochokinesis	Frequent (79-30%)
HP:0002310	Orofacial dyskinesia	Frequent (79-30%)
HP:0003474	Sensory impairment	Frequent (79-30%)
HP:0003487	Babinski sign	Frequent (79-30%)
HP:0007663	Reduced visual acuity	Frequent (79-30%)
HP:0011968	Feeding difficulties	Frequent (79-30%)
HP:0012452	Restless legs	Frequent (79-30%)
HP:0000608	Macular degeneration	Occasional (29-5%)
HP:0000613	Photophobia	Occasional (29-5%)
HP:0000618	Blindness	Occasional (29-5%)
HP:0000709	Psychosis	Occasional (29-5%)
HP:0012047	Hemeralopia	Occasional (29-5%)

Phenotype(s) retrieved from case reports

Total: 10

HPO ID	Term	# of case reports
HP:0000546	Retinal degeneration	4
HP:0000488	Retinopathy	1
HP:0000529	Progressive visual loss	1
HP:0000572	Visual loss	1
HP:0000618	Blindness	1
HP:0001251	Ataxia	1
HP:0002015	Dysphagia	1
HP:0002073	Progressive cerebellar ataxia	1
HP:0002315	Headache	1
HP:0007754	Macular dystrophy	1

Causative gene(s) retrieved from Orphanet

Total: 1

Gene Symbol	Gene Name	Entrez Gene ID
ATXN7	ataxin 7	6314