Spinocerebellar Ataxia Type 28
Description
Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration.
Clinical Features
Top most frequent phenotypes and symptoms related to Spinocerebellar Ataxia Type 28
- Ataxia
- Nystagmus
- Spasticity
- Ptosis
- Cognitive impairment
- Hyperreflexia
- Dysarthria
- Gait disturbance
- Dysphagia
- Cerebellar atrophy
And another 21 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Spinocerebellar Ataxia Type 28 Is also known as sca28.
Researches and researchers
Doctors, researchs, and experts related to Spinocerebellar Ataxia Type 28 extracted from public data.
Spinocerebellar Ataxia Type 28 Experts map
Current Researchs and researchers
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MILANO — Pr Giorgio CASARI
Investigator of research project - Coordinator of research network
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Institution/s:
— Dipartimento di Biotecnologie - Divisione di Neuroscienze, IRCCS Ospedale San Raffaele
— Telethon Institute of Genetics and Medicine - Telethon Foundation, TIGEM - Telethon Institute of Genetics and Medicine -
Research area/topic::
Mitochondrial dynamics and calcium homeostasis at the crossroad of the AFG3L2-associated pathway to cerebellar degeneration. From molecular hypothesis to preclinical treatment
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Institution/s:
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NAPOLI — Pr Giorgio CASARI
Investigator of research project - Coordinator of research network
-
Institution/s:
— Dipartimento di Biotecnologie - Divisione di Neuroscienze, IRCCS Ospedale San Raffaele
— Telethon Institute of Genetics and Medicine - Telethon Foundation, TIGEM - Telethon Institute of Genetics and Medicine -
Research area/topic::
Mitochondrial dynamics and calcium homeostasis at the crossroad of the AFG3L2-associated pathway to cerebellar degeneration. From molecular hypothesis to preclinical treatment
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Institution/s:
Spinocerebellar Ataxia Type 28 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
MitoMet®Plus aCGH Analysis.
By Baylor Miraca Genetics Laboratories (United States).
RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)
View the complete list with 612 more genes
Specificity
1 %
Genes
100 % |
Ataxia, Supplemental Recessive Evaluation.
By Athena Diagnostics Inc (United States).
SACS, TTPA, APTX, COQ8A, SYNE1, TDP1, SYT14, SIL1, FLVCR1, ANO10, MTPAP, AFG3L2, SETX, GRM1, MRE11, ATM, POLG
Specificity
6 %
Genes
100 % |
Ataxia, Complete Recessive Evaluation.
By Athena Diagnostics Inc (United States).
SACS, TTPA, APTX, COQ8A, SYNE1, TDP1, SYT14, SIL1, FLVCR1, ANO10, MTPAP, AFG3L2, FXN, SETX, GRM1, MRE11, ATM, POLG
Specificity
6 %
Genes
100 % |
Ataxia, Comprehensive Evaluation.
By Athena Diagnostics Inc (United States).
SACS, ATXN1, ATXN10, ATXN2, ATXN7, ATXN8OS, SLC1A3, SPTBN2, TBP, TTPA, VAMP1, CACNA1A, CACNB4, APTX, TGM6, COQ8A, SYNE1, TDP1, TTBK2, SYT14 , (...)
View the complete list with 22 more genes
Specificity
3 %
Genes
100 % |
Ataxia, Supplemental Dominant Evaluation.
By Athena Diagnostics Inc (United States).
SLC1A3, SPTBN2, VAMP1, CACNA1A, CACNB4, TGM6, TTBK2, AFG3L2, EEF2, FGF14, ITPR1, KCNA1, KCNC3, KCND3, PDYN, PRKCG
Specificity
7 %
Genes
100 % |
Ataxia, Complete Dominant Evaluation.
By Athena Diagnostics Inc (United States).
ATXN1, ATXN10, ATXN2, ATXN7, ATXN8OS, SLC1A3, SPTBN2, TBP, VAMP1, CACNA1A, CACNB4, TGM6, TTBK2, ATN1, AFG3L2, EEF2, FGF14, ITPR1, KCNA1, KCNC3 , (...)
View the complete list with 5 more genes
Specificity
4 %
Genes
100 % |
Dystonia.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
SCP2, SGCE, SLC20A2, SLC2A1, SLC6A3, SPR, SUCLA2, SUOX, TAF1, TH, TIMM8A, TREX1, MCOLN1, FBXO7, CACNA1A, NPC2, PINK1, PANK2, SAMHD1, APTX , (...)
View the complete list with 57 more genes
Specificity
2 %
Genes
100 % |
Movement Disorders Panel.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
SCP2, SGCE, SLC20A2, SLC2A1, SLC6A3, SNCA, SPR, SQSTM1, SUCLA2, SUOX, TAF1, TH, TIMM8A, TREX1, MCOLN1, VPS35, FBXO7, CACNA1A, NPC2, PINK1 , (...)
View the complete list with 72 more genes
Specificity
2 %
Genes
100 % |
You can get up to 42 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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