Idiopathic Late Onset Cerebellar Ataxia (ILOCA), and Cerebellar plus Syndrome
Spinocerebellar ataxias (SCAs), also called spinocerebellar degenerations, comprise a large group of slowly progressive neurodegenerative diseases characterized by truncal and limb ataxias as the cardinal clinical features. Sporadic degenerative ataxias i
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Shoji Tsuji
Abstract
Spinocerebellar ataxias (SCAs), also called spinocerebellar degenerations, comprise a large group of slowly progressive neurodegenerative diseases characterized by truncal and limb ataxias as the cardinal clinical features. Sporadic degenerative ataxias include idiopathic late-onset cerebellar ataxia (ILOCA), ILOCA with cerebellar-plus syndrome, and multiple system atrophy (MSA). The clinical presentations of ILOCA (CCA) are characterized by late ages at onset with slow progression and pure cerebellar ataxia with markedly ataxic gait with relative preservation of coordination in the upper limbs. ILOCA with cerebellar-plus syndrome is characterized by cerebellar ataxia together with additional neurological features including pyramidal signs, mild dementia, supranuclear ophthalmoplegia, optic atrophy, dysphagia, parkinsonism, sphincter disturbances, hypopallaesthesia, or chorea. MSA is a sporadic neurodegenerative disorder characterized by various combinations of autonomic dysfunction, cerebellar symptoms, parkinsonism, and pyramidal signs. MSA has recently been classified into two subtypes: MSAC (characterized by cerebellar ataxia) and MSA-P (characterized predominantly by parkinsonism). Among these sporadic neurodegenerative ataxias, ILOCA (CCA) is characterized by slow progression rate, while patients with MSA-c show faster progression compared to other neurodegenerative ataxias. Although there are no curative treatments available to prevent disease progression, continuous physiotherapeutic interventions in ataxia patients are encouraged.
S. Tsuji Department of Neurology, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-8655, Japan e-mail: [email protected] M. Manto, D.L. Gruol, J.D. Schmahmann, N. Koibuchi, F. Rossi (eds.), 2143 Handbook of the Cerebellum and Cerebellar Disorders, DOI 10.1007/978-94-007-1333-8_98, # Springer Science+Business Media Dordrecht 2013
2144
S. Tsuji
Introduction Spinocerebellar ataxias (SCAs), also called spinocerebellar degenerations, comprise a large group of slowly progressive neurodegenerative diseases characterized by truncal and limb ataxias as the cardinal clinical features. The age at onset broadly ranges from childhood to late adulthood. The etiologies of SCAs are diverse, including those of both hereditary and sporadic diseases. Recent advances in the molecular genetics of SCAs have revealed a number of loci and causative genes for hereditary ataxias, of which dominantly inherited SCAs include SCA1 to SCA36, and dentatorubral-pallidoluysian atrophy (DRPLA) (Manto and Marmolino 2009), Schols (2004). Ataxias with autosomal recessive inheritance include Friedreich ataxia, ataxia with isolated vitamin E deficiency (AVED), ataxia, early-onset ataxia with ocular motor apraxia and hypoalbuminemia/A ataxia with oculomotor apraxia type 1 (EAOH/AOA1), ataxia with oculomotor apraxia type 2 (AOA2), ataxia-telangiectasia, ataxia-telangiectasia-like disorder, spinocerebellar ataxia with axonal neuropathy, Charlevoix
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