ATXN2 gene related symptoms and diseases

All the information presented here about the ATXN2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

Top 5 symptoms and clinical features associated to ATXN2 gene

Symptoms // Phenotype	% Cases
Parkinsonism	Very Common - Between 80% and 100% cases
Dementia	Very Common - Between 80% and 100% cases
Neuronal loss in central nervous system	Common - Between 50% and 80% cases
Fasciculations	Common - Between 50% and 80% cases
Dysphagia	Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with ATXN2 gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases
Dystonia
Dysarthria
Not very common - Between 30% and 50% cases
Skeletal muscle atrophy
Bradykinesia
Depressivity
Cognitive impairment
Resting tremor
Spasticity

And 135 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to ATXN2 gene

Here you will find a list of rare diseases related to the ATXN2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

SPINOCEREBELLAR ATAXIA TYPE 2

Alternate names

SPINOCEREBELLAR ATAXIA TYPE 2 Is also known as sca2

Description

Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea.

Most common symptoms of SPINOCEREBELLAR ATAXIA TYPE 2

Generalized hypotonia
Nystagmus
Dysarthria
Dystonia
Hyporeflexia

More info about SPINOCEREBELLAR ATAXIA TYPE 2

SOURCES: ORPHANET

SPINOCEREBELLAR ATAXIA 2; SCA2

Alternate names

SPINOCEREBELLAR ATAXIA 2; SCA2 Is also known as wadia-swami syndrome, spinocerebellar ataxia, cuban type, olivopontocerebellar atrophy, holguin type, spinocerebellar degeneration with slow eye movements, olivopontocerebellar atrophy ii, spinocerebellar atrophy ii, cerebellar degeneration with slow eye moveme

Description

Autosomal dominant cerebellar ataxias (ADCAs) are a heterogeneous group of disorders that were classified clinically by Harding (1983). Progressive cerebellar ataxia is the primary feature. In ADCA I, cerebellar ataxia of gait and limbs is invariably associated with supranuclear ophthalmoplegia, pyramidal or extrapyramidal signs, mild dementia, and peripheral neuropathy. In ADCA II, macular and retinal degeneration are added to the features. ADCA III is a pure form of late-onset cerebellar ataxia. ADCA I includes SCA1 (OMIM ), SCA2, and SCA3, or Machado-Joseph disease (OMIM ). These 3 are characterized at the molecular level by CAG repeat expansions on 6p24-p23, 12q24.1, and 14q32.1, respectively.For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (OMIM ).

Most common symptoms of SPINOCEREBELLAR ATAXIA 2; SCA2

Global developmental delay
Generalized hypotonia
Ataxia
Nystagmus
Muscular hypotonia

More info about SPINOCEREBELLAR ATAXIA 2; SCA2

SOURCES: OMIM

AMYOTROPHIC LATERAL SCLEROSIS

Alternate names

AMYOTROPHIC LATERAL SCLEROSIS Is also known as als, amyotrophic lateral sclerosis 1, autosomal dominant, fals, lou gehrig disease, charcot disease, amyotrophic lateral sclerosis 1, familial

Description

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord.

Most common symptoms of AMYOTROPHIC LATERAL SCLEROSIS

Microcephaly
Muscle weakness
Pain
Cataract
Spasticity

More info about AMYOTROPHIC LATERAL SCLEROSIS

SOURCES: OMIM MESH ORPHANET

PARKINSON DISEASE, LATE-ONSET; PD

Alternate names

PARKINSON DISEASE, LATE-ONSET; PD Is also known as park

Description

Parkinson disease was first described by James Parkinson in 1817. It is the second most common neurodegenerative disorder after Alzheimer disease (AD ), affecting approximately 1% of the population over age 50 (Polymeropoulos et al., 1996). ReviewsWarner and Schapira (2003) reviewed the genetic and environmental causes of Parkinson disease. Feany (2004) reviewed the genetics of Parkinson disease and provided a speculative model of interactions among proteins implicated in PD. Lees et al. (2009) provided a review of Parkinson disease, with emphasis on diagnosis, neuropathology, and treatment. Genetic Heterogeneity of Parkinson DiseaseSeveral loci for autosomal dominant Parkinson disease have been identified, including PARK1 (OMIM ) and PARK4, caused by mutation in or triplication of the alpha-synuclein gene (SNCA ), respectively, on 4q22; PARK5 (OMIM ), caused by mutation in the UCHL1 gene on 4p13; PARK8 (OMIM ), caused by mutation in the LRRK2 gene (OMIM ) on 12q12; PARK11 (OMIM ), caused by mutation in the GIGYF2 gene (OMIM ) on 2q37; PARK13 (OMIM ), caused by mutation in the HTRA2 gene (OMIM ) on 2p13; PARK17 (OMIM ), caused by mutation in the VPS35 gene (OMIM ) on 16q11; and PARK18 (OMIM ), caused by mutation in the EIF4G1 gene (OMIM ) on 3q27.Several loci for autosomal recessive early-onset Parkinson disease have been identified: PARK2 (OMIM ), caused by mutation in the gene encoding parkin (PARK2 ) on 6q26; PARK6 (OMIM ), caused by mutation in the PINK1 gene (OMIM ) on 1p36; PARK7 (OMIM ), caused by mutation in the DJ1 gene (PARK7 ) on 1p36; PARK14 (OMIM ), caused by mutation in the PLA2G6 gene (OMIM ) on 22q13; PARK15 (OMIM ), caused by mutation in the FBXO7 gene (OMIM ) on 22q12-q13; PARK19A (OMIM ) and PARK19B (see {615528}), caused by mutation in the DNAJC6 gene (OMIM ) on 1p32; and PARK20 (OMIM ), caused by mutation in the SYNJ1 gene (OMIM ) on 21q22.PARK3 (OMIM ) has been mapped to chromosome 2p13; PARK10 (OMIM ) has been mapped to chromosome 1p34-p32; PARK16 (OMIM ) has been mapped to chromosome 1q32. See also PARK21 (OMIM ). A locus on the X chromosome has been identified (PARK12 ). There is also evidence that mitochondrial mutations may cause or contribute to Parkinson disease (see {556500}). Susceptibility to the development of the more common late-onset form of Parkinson disease has been associated with polymorphisms or mutations in several genes, including GBA (OMIM ), MAPT (OMIM ), MC1R (OMIM ), ADH1C (OMIM ), and genes at the HLA locus (see, e.g., HLA-DRA, {142860}). Each of these risk factors independently may have a modest effect on disease development, but together may have a substantial cumulative effect (Hamza et al., 2010).Susceptibility to PD may also be conferred by expanded trinucleotide repeats in several genes causing other neurologic disorders usually characterized by spinocerebellar ataxia (SCA), including the ATXN2 (OMIM ), ATXN3 (OMIM ), TBP (OMIM ), and ATXN8OS (OMIM ) genes.

Most common symptoms of PARKINSON DISEASE, LATE-ONSET; PD

Ataxia
Cognitive impairment
Dysarthria
Tremor
Dysphagia

More info about PARKINSON DISEASE, LATE-ONSET; PD

SOURCES: OMIM

Search interest in ATXN2

Potential gene panels for ATXN2 gene

SCA2 (ATXN2) Repeat Expansion Test Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the ATXN2 gene.

ATXN2 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to ATXN2 gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Not very common - Between 30% and 50% cases

Rare diseases associated to ATXN2 gene

SPINOCEREBELLAR ATAXIA TYPE 2

Alternate names

Description

Most common symptoms of SPINOCEREBELLAR ATAXIA TYPE 2

SPINOCEREBELLAR ATAXIA 2; SCA2

Alternate names

Description

Most common symptoms of SPINOCEREBELLAR ATAXIA 2; SCA2

AMYOTROPHIC LATERAL SCLEROSIS

Alternate names

Description

Most common symptoms of AMYOTROPHIC LATERAL SCLEROSIS

PARKINSON DISEASE, LATE-ONSET; PD

Alternate names

Description

Most common symptoms of PARKINSON DISEASE, LATE-ONSET; PD

Search interest in ATXN2

Potential gene panels for ATXN2 gene

SCA2 (ATXN2) Repeat Expansion Test Panel

Ataxia, Common Repeat Expansion Evaluation Panel

Ataxia, Comprehensive Evaluation Panel

Ataxia, Complete Dominant Evaluation Panel

Spinocerebellar ataxia 2 Panel

Spinocerebellar ataxia type 2 Panel

Spinocerebellar Ataxia Panel (SCA1,2,3,6, and 7) Panel

Spinocerebellar ataxia type 2 Panel

Amyotrophic Lateral Sclerosis Panel

Ataxia Repeat Expansion Panel Panel

Spinocerebellar Ataxia: Panel of SCA1, SCA2, SCA3, SCA6, SCA7 Panel

Spinocerebellar ataxia 2 Panel

Spinocerebellar Ataxia Type 2 Panel

SCA Panel (SCA1, 2, 3, 6, 7) test Panel

Ataxin 2 (ATXN2) gene CAG triplet repeat test Panel

Spinocerebellar Ataxia 2 Panel

ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A. Detection of the expansions associated to SCA1, SCA2, SCA3, SCA6 and SCA7 by PCR Panel

ATXN2. CAG expansion detection by PCR Panel

Spinocerebellar ataxia 2 (SCA2, CAG expansion on ATXN2 gene) Panel

Spinocerebellar ataxias SCA1, SCA2, SCA3, SCA6 and SCA7 (CAG expansion on genes ATXN1, ATXN2, ATXN3, CACNA1A and ATXN7) Panel

Spinocerebellar ataxias SCA1, SCA2, SCA3 and SCA6 (CAG expansion on genes ATXN1, ATXN2, ATXN3 and CACNA1A) Panel

SCA 2, Spinocerebellar ataxia 2 Panel

Spinocerebellar Ataxia Panel (SCA1, SCA2, SCA3, SCA6, SCA7) Panel

Spinocerebellar Ataxia Type 2 Panel

Spinocerebellar Ataxia Panel

Ataxia (AD/AR) panel Panel

Spinocerebellar ataxia type 2 Panel

ALS panel Panel

Comprehensive Spinocerebellar Ataxia Repeat Expansion Panel (SCA 1, 2, 3, 6, 7, 8, 10, 12, 17, 36 & DRPLA) Panel

Amyotrophic Lateral Sclerosis (ALS) Panel Panel

Hereditary Degenerative Syndromes Panel Panel

Parkinson all Panel Panel

Choreatic Movement Disorders Panel Panel

Frontotemporal Dementia (FTD) Panel Panel

Ataxia and differential diagnoses Panel Panel

Atypical Parkinson syndrome Panel Panel

Dementia all Panel Panel

Ataxia, autosomal dominant and X-linked Panel Panel

Single gene testing ATXN2 Panel

Spinocerebellar Ataxia 2 Panel

Test for Spinocerebellar Ataxia Type 2 Panel

Spinocerebellar ataxia 2 Panel

SCA2 Panel

Spinocerebellar Ataxia 02 Panel

Spinocerebellar ataxia: Panel SCA1, SCA2, SCA3, SCA6, SCA7, SCA8, SCA10 and SCA17 Panel

Spinocerebellar ataxia: Panel SCA1, SCA2, SCA3, SCA6 and SCA7 Panel

Spinocerebellar ataxia type 2 (SCA2): CAG expansion analysis (TP-PCR) Panel

Spinocerebellar ataxia type 2 (SCA2): CAG expansion analysis Panel

Spinocerebellar ataxia Panel

NGS panel - Parkinson Panel

Amyotrophic Lateral Sclerosis NGS Panel Panel

ATXN2 Panel

Spinocerebellar ataxia type 2 Panel

Exome Panel

SPINOCEREBELLAR ATAXIA (AUTOSOMAL DOMINANT) (SCAs) Panel

AMYOTROPHIC LATERAL SCLEROSIS: ALS NGS PANEL Panel