ReviewThe Ins and Outs of a Polyglutamine Neurodegenerative Disease: Spinocerebellar Ataxia Type 1 (SCA1)
References (32)
- et al.
Intranuclear neuronal inclusions in Huntington's disease and dentatorubral and pallidoluysian atrophy: Correlation between the density of inclusions and IT15 CAG triplet repeat length
Neurobiol. Dis.
(1998) - et al.
SCA1 transgenic mice: A model for neurodegeneration caused by an expanded CAG trinucleotide repeat
Cell
(1995) - et al.
Mutation of the E6-AP ubiquitin ligase reduces nuclear inclusion frequency while accelerating polyglutamine-induced pathology in SCA1 transgenic mice
Neuron
(1999) - et al.
Formation of neuronal intranuclear inclusions underlies the neurological dysfunction in mice transgenic for the HD mutation
Cell
(1997) - et al.
Ataxin-1 nuclear localization and aggregation: Role in polyglutamine-induced disease in SCA1 transgenic mice
Cell
(1998) - et al.
Huntingtin acts in the nucleus to induce apoptosis but death does not correlate with the formation of intranuclear inclusions
Cell
(1998) - et al.
Huntingtin-encoded polyglutamine expansions form amyloid-like protein aggregates in vitro and in vivo
Cell
(1997) - et al.
Reversal of neuropathology and motor dysfunction in a conditional model of Huntington's disease
Cell
(2000) - et al.
Transgenic mice in the study of polyglutamine repeat expansion diseases
Brain Pathol.
(1998) - et al.
The new paradigm: Integrating genomic function and nuclear architecture
J. Cell. Biochem. (Suppl.)
(1998)
Purkinje cell expression of a mutant allele of SCA1 in transgenic mice leads to disparate effects on motor behaviors, followed by a progressive cerebellar dysfunction and histological alterations
J. Neurosci.
Aggregation of Huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain
Science
Modulation of CREB binding protein function by the promyelocytic (PML) oncoprotein suggests a role for nuclear bodies in hormone signaling
Proc. Natl. Acad. Sci. USA
The Purkinje cell in olivopontocerebellar atrophy. A Golgi and immunocytochemical study
Neuropathol. Appl. Neurobiol.
Spinocerebellar ataxia type 7 (SCA7): A neurodegenerative disorder with neuronal intranuclear inclusions
Hum. Mol. Genet.
Cited by (18)
5′UTR-mediated regulation of Ataxin-1 expression
2020, Neurobiology of DiseaseCitation Excerpt :Spinocerebellar ataxia type 1 (SCA1) is a dominantly inherited neurodegenerative disease caused by the abnormal expansion of a CAG codon repeat in the open reading frame of the ATXN1 gene (Orr et al., 1993). Individuals with SCA1 display a progressive deterioration of balance and gait control, as well as swallowing and breathing difficulties, leading to premature death (Ashizawa et al., 2013; Orr, 2000; Orr et al., 1993; Zoghbi and Orr, 2009). Although the Ataxin-1 protein is expressed throughout the brain, and other parts of the body, a preferential loss of cerebellar Purkinje cells and a thinning of the brainstem are the main pathological findings in SCA1 (Seidel et al., 2012; Servadio et al., 1995).
Impairment of spinal motor neurons in spinocerebellar ataxia type 1-knock-in mice
2013, Neuroscience LettersCitation Excerpt :However, disease alleles are pure CAG tracts ranging from 39 to 82 units [4]. SCA1 typically presents in the 4th decade (age range is 4–74 years) [18,23]. The patients show dysarthria, handwriting difficulties and limb ataxia as common symptoms [18,23].
Spinocerebellar ataxia type 2
2012, Handbook of Clinical NeurologyCitation Excerpt :Furthermore, in individuals with very large CAG expansions or in severe late stages of SCA2, an overlap with other polyglutamine diseases becomes apparent, since retinitis pigmentosa may be considered an overlap with SCA7, and myoclonus and epilepsy may be considered an overlap with DRPLA. In the clinical differential diagnosis of SCA2 in comparison with other SCAs, SCA1 may present with more pyramidal signs, executive dysfunction, hypermetric saccades, nystagmus, optic atrophy, dysphagia, and breathing problems (Bürk et al., 1996; Abele et al., 1997; Orr, 2000); SCA3 with more diplopia, hypometric saccades, motor neuron disease, neuropathy, extrapyramidal signs, spasticity, and impaired temperature discrimination (Schöls et al., 1997); SCA6 with a more restricted cerebellar picture and usually late onset beyond 50 years (Schöls et al., 1997, 1998); SCA7 with macular degeneration from retinitis pigmentosa and hyperreflexia (Michalik et al., 2004; Maschke et al., 2005), SCA10 with seizures and an increased occurrence among Mexicans; SCA12 with head action tremor upon manifestation; SCA13 with psychomotor retardation and early onset below 10 years of age; SCA14 with axial myoclonus in early-onset patients; SCA16 with rotary head tremor; SCA17 with psychiatric symptoms, chorea, dementia, and seizures; SCA18 with onset below 20 years of age; and SCA20 with dysphonia and palatal or lip tremor, Parkinson's disease with hyposmia and the absence of ataxia and saccade impairment (Manto, 2005; van de Warrenburg et al., 2005a). However, in view of the heterogeneity of heredoataxias, the many undefined variants and the clinical overlap, the diagnosis of SCA2 should always be based on molecular genetics.
Molecular analysis of spinocerebellar ataxia trinucleotide repeat behavior in normal individuals of a Brazilian population
2008, Journal of the Neurological SciencesImperfect CAG repeats form diverse structures in SCA1 transcripts
2004, Journal of Biological ChemistryDiagnosis of five spinocerebellar ataxia disorders by multiplex amplification and capillary electrophoresis
2002, Journal of Molecular Diagnostics
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