BACKGROUND Although mentioned in most series, "pure" autosomal dominant cerebellar ataxias, except spinocerebellar ataxia type 6, are difficult to differentiate on clinical grounds. OBJECTIVE To describe Portuguese families with a peculiar pure form of dominant ataxia that, to our knowledge, has never been documented before and in which cerebellar signs are preceded by spasmodic cough. PATI...

Among the hereditary ataxias, autosomal recessive spinocerebellar ataxias comprise a diverse group of neurodegenerative disorders. Clinical phenotypes vary from predominantly cerebellar syndromes to sensorimotor neuropathy, ophthalmological disturbances, involuntary movements, seizures, cognitive dysfunction, skeletal anomalies, and cutaneous disorders, among others. Molecular pathogenesis also...

Cerebellar ataxias (CA) comprise a heterogeneous group of neurodegenerative diseases characterized by a lack of motor coordination. They are caused by disturbances in the cerebellum and its associated circuitries, so the major therapeutic goal is to correct cerebellar dysfunction. Neurotrophic factors enhance the survival and differentiation of selected types of neurons. Liver growth factor (LG...

Mitochondrial dysfunction plays a significant role in neurodegenerative disease including ataxias and other movement disorders, particularly those marked by progressive degeneration in the cerebellum. In this study, we investigate the role of mitochondrial oxidative phosphorylation (OXPHOS) deficits in cerebellar tissue of a Purkinje cell-driven spinocerebellar ataxia type 1 (SCA1) mouse. Using...

Hereditary ataxia is a heterogeneous disorder characterized by progressive ataxia combined with/without peripheral neuropathy, extrapyramidal symptoms, pyramidal symptoms, seizure, and multiple systematic involvements. More than 35 autosomal dominant cerebellar ataxias have been designated as spinocerebellar ataxia, and there are 55 recessive ataxias that have not been named systematically. Con...

SCA type 6 in 20.0%, ADCA linked to chromosome 16q22.1 in 10.0%, dentatorubral pallidoluysian atrophy in 4.4%, SCA type 1 in 1.1% and SCA type 2 in 1.1%. SCA type 3 was highly prevalent in the Toyama prefecture of the Hokuriku district, particularly in the Gosei area (the western part of Toyama prefecture), with a prevalence of 19.1 per 100,000 people [10] , which is very similar to the prevale...

The autosomal dominant cerebellar ataxias, also known as spinocerebellar ataxias (SCA), are characterized by cerebellar degeneration and by their afferent and efferent connections. Currently, at least 31 types of SCA are described, among which a subset, comprising types 1, 2, 3, 6, 7, 17 of the disease, is distinguished due to sharing the same form of mutation involving the repetition of the se...

Ataxias are neurological disorders associated with the degeneration of Purkinje cells (PCs). Homozygous weaver mice (wv/wv) have been proposed as a model for hereditary cerebellar ataxia because they present motor abnormalities and PC loss. To ascertain the physiopathology of the weaver condition, the development of the cerebellar cortex lobes was examined at postnatal day (P): P8, P20 and P90....

The predominant (though not exclusive) reference to degenerative ataxias is due to the fact that the specificity of the affected cell populations should allow anticipation of more or less specific neurochemical alterations. This information could be used to look for therapeutic strategies, given the absence of curative treatments for the majority of ataxic disorders. This review covers only the...

A taxia is a broad term that literally means " without order ". The term locomotor ataxia has been most commonly used to refer to motor incoordination. The most widely recognized form, cerebellar ataxia (CA), can be classified as primary, idiopathic, acquired (or secondary) and sporadic 1. Primary, CAs are further subdivided into congenital and hereditary, the latter including autosomal recessi...