To save content items to your account,
please confirm that you agree to abide by our usage policies.
If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account.
Find out more about saving content to .
To save content items to your Kindle, first ensure firstname.lastname@example.org
is added to your Approved Personal Document E-mail List under your Personal Document Settings
on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part
of your Kindle email address below.
Find out more about saving to your Kindle.
Note you can select to save to either the @free.kindle.com or @kindle.com variations.
‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi.
‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.
Spinocerebellar ataxia type 3 (SCA3) is a form of dominant ataxia which, prior to the recognition of its genotype, would have been labeled as Marie's ataxia, olivoponto-cerebellar atrophy, or autosomal dominant cerebellar ataxia type 1. The occurrence of a dominant ataxia among the Azorean immigrants to the USA was first described by Nakano et al. (1972) in the family of William Machado from Massachusetts. A second family from the Azores, descended from Anton Joseph, with a dominantly inherited neurodegenerative disease that was primarily characterized by spasticity and rigidity, was described from California by Rosenberg et al. (1976). Neuropathologic examination in this family showed loss of nigral and spinal cord neurons. Other Azorean families with a similar disorder had members with a Parkinsonian phenotype (Romanul et al., 1977). Field trips to the Azores by Portuguese and American workers found a high prevalence of this dominantly inherited neurodegenerative disorder among the residents of the Azorean islands (Coutinho and Andrade, 1978). The disease was characterized by considerable intrafamilial variation in clinical phenotype; both the ataxic and the spastic-rigid phenotypes were found within the same families, and the disease was variously named Machado–Joseph disease and Azorean disease of the nervous system (Romanul et al., 1977; Dawson, 1977). Though the disorder shared many features with dominantly inherited cerebellar ataxia in non- Portuguese populations, its unique phenotypic variability was thought to reflect a disease prevalent only among the Portuguese Azoreans. A similar clinical disorder occurring in non-Portuguese families was thought to result from the introduction of Portuguese genes into these ethnic groups (Healton et al., 1980; Sakai et al., 1983; Subramony et al., 1993).
Email your librarian or administrator to recommend adding this to your organisation's collection.