Disease relevance of Spinocerebellar Degenerations

• The hereditary ataxias are a group of inherited neurodegenerative disorders characterized by progressive ataxia that results from degeneration of the cerebellum and its afferent and efferent connections [1].
• Effect of thyrotropin-releasing hormone on ataxia of spinocerebellar degeneration [2].
• Spinocerebellar ataxia 6 (SCA6) is an autosomal dominant spinocerebellar degeneration caused by the expansion of the polymorphic CAG repeat in the human alpha1A voltage-dependent calcium channel subunit gene (CACNL1A4 gene) [3].
• A recent report indicated an association between the spinocerebellar degeneration of Friedreich's ataxia and abnormal fatty acid profiles of the cholesterol ester fraction in both total plasma and high-density lipoprotein [4].
• The February COM: A man of 78 years with idiopathic late-onset cerebellar ataxia developed renal failure in association with a high ESR and positive pANCA [5].

Psychiatry related information on Spinocerebellar Degenerations

• The molecular defects responsible for Huntington's disease, the spinocerebellar degenerations, myotonic muscular dystrophy, neurofibromatosis, and tuberous sclerosis, among other major dominant inherited diseases of the nervous system, will be identified using the new techniques of molecular genetics [6].
• Ataxia-oculomotor apraxia syndrome 1 is an early onset cerebellar ataxia that results from loss of function mutations in the APTX gene, encoding Aprataxin, which contains three conserved domains [7].
• Feeblemindedness, dementia, mental disorders, and epilepsy, as well as optic atrophy, tapeto-retinal degenerations, cataract, ophthalmoplegias, and neural hearing loss were found more frequently in patients suffering from hereditary ataxias (HA) and allied disorders than in the general population [8].
• Apolipoprotein E (apo E) epsilon4 is a risk factor for sporadic and late-onset familial Alzheimer's disease, but it is not well known whether the apo E is associated with spinocerebellar degeneration [9].
• Marinesco-Sjögren syndrome is a very rare disease that develops in childhood with main symptoms of cataract, ataxia, mental deficiency and microsomia, and is regarded as a type of spinocerebellar degeneration [10].

High impact information on Spinocerebellar Degenerations

• Although it was first reported in families of Portuguese-Azorean descent, MJD has also been described in non-Azorean families from various countries, being one of the most common hereditary spinocerebellar degenerations [11].
• Spinocerebellar degeneration associated with a selective defect of vitamin E absorption [12].
• TRH and spinocerebellar degeneration [13].
• These results strongly support a new mechanism for neuronal cell dysfunction and death in hereditary ataxias and suggest that there may be a common pathway for PKC gamma-related and polyglutamine-related neurodegeneration [14].
• This ataxia, identified so far only in the genetically isolated Finnish population, does not share gene locus with any of the previously identified hereditary ataxias, and a random mapping approach was adopted to assign the IOSCA locus [15].

Chemical compound and disease context of Spinocerebellar Degenerations

• Mitochondrial hydroxyapatite deposits in spinocerebellar degeneration [16].
• A 20-year-old patient had spinocerebellar degeneration and parkinsonian tremor that improved with L-dopa treatment [17].
• Galactosylceramide lipidosis: novel presentation as a slowly progressive spinocerebellar degeneration [18].
• Friedreich's ataxia is the most common hereditary ataxia and is frequently associated with disturbances of glucose metabolism [19].
• Pyruvate dehydrogenase deficiency in spinocerebellar degenerations [20].

Biological context of Spinocerebellar Degenerations

• Absence of REM and altered NREM sleep in patients with spinocerebellar degeneration and slow saccades [21].
• The spinocerebellar ataxia type 2 (SCA2) is caused by a trinucleotide (CAG) expansion in the coding region of the ataxin 2 gene on chromosome 12q.89 families with autosomal dominant cerebellar ataxia (ADCA) types I, II and III, and 47 isolated cases with idiopathic late onset cerebellar ataxia (ILOCA), were analysed for this mutation [22].
• We propose that deranged intestinal and hepatic lipid metabolism and defective proglucagon gene expression contribute to hypoglycemia in PITP alpha-/- mice, and that hypoglycemia is a significant contributing factor in the onset of spinocerebellar disease [23].
• Hereditary spastic paraplegia and hereditary ataxia, Part 2: A family demonstrating various phenotypic manifestations with the SCA3 genotype [24].
• Nerve conduction studies have been performed in 19 subject with hereditary spinocerebellar degenerations other than Friedreich ataxia [25].

Anatomical context of Spinocerebellar Degenerations

• We report the presence of crystalline deposits of calcium hydroxyapatite in the mitochondria of 2 children with sporadic spinocerebellar degeneration [16].
• Investigation of a 15-year old boy with progressive optic atrophy and spinocerebellar degeneration revealed elevated plasma, cerebrospinal fluid, and urine glycine concentrations [26].
• Degeneration of cerebellar cortex is one of the principal features of hereditary ataxias linked to expansion of CAG repeat [27].
• In addition, GluR2 editing efficiency was more than 99% in the cerebellar Purkinje cells of ALS, spinocerebellar degeneration and normal control groups [28].
• This is a rare case of adrenoleukodystrophy presenting as spinocerebellar degeneration and showing marked atrophy and several parenchymatous lesions of the cerebellum and brain stem [29].

Gene context of Spinocerebellar Degenerations

• Machado-Joseph disease (MJD)/spinocerebellar ataxia type 3 (SCA3) is an autosomal dominant spinocerebellar degeneration characterized by a wide range of clinical manifestations [30].
• SCA6 is a slowly progressive, late-onset cerebellar ataxia due to a trinucleotide expansion in the CACNA1A gene [31].
• There appears to be an autosomal dominant form of spinocerebellar degeneration which is segregating separately to NF2 in this family, which created a diagnostic dilemma [32].
• Partially deficient glutamate dehydrogenase activity and attenuated oscillatory potentials in patients with spinocerebellar degeneration [33].
• BACKGROUND: Dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant spinocerebellar degeneration that exhibits a variety of neurologic manifestations [34].

Analytical, diagnostic and therapeutic context of Spinocerebellar Degenerations

• The pedigree reported here will be valuable in the identification and cloning of a gene for hereditary ataxia, designated "SCA2" at the Eleventh International Workshop on Human Gene Mapping [35].
• Immunochemical analyses (Western blots) of cerebellar homogenates for glutamate dehydrogenase (GDH) from patients with spinocerebellar degeneration and control subjects were conducted [36].
• These results show that an intranasal administration of TRH can ameliorate the ataxia in staggerer mice, and may be promising for clinical use in patients with spinocerebellar degeneration [37].

References