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Degenerative Diseases of the Nervous System
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
James A. Mastrianni, Elizabeth A. Harris
Cerebellar ataxia is a frequent finding among patients seen in neurologic practice and may result from a wide variety of etiologies, both acquired and genetic. Inherited ataxia is a large and important subgroup of the ataxic disorders, and includes metabolic ataxias, autosomal recessive degenerative ataxias, autosomal dominant spinocerebellar ataxias (SCAs), X-linked, and maternally inherited ataxias. This section discusses predominantly the inherited causes of cerebellar ataxia, with more limited coverage of acquired and nonsyndromic congenital causes.
Niemann-Pick disease
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
Others with a relatively mild phenotype may have some neurologic features. Extrapyramidal signs were reported in one family [42]. Impaired mental development was reported in unrelated patients at nine and 18 years [43]. A number of patients has been reported with cerebellar ataxia [18, 42, 43]. Some of these may have been patients who had Niemann-Pick type C disease. Patients have had cherry red spots or other grayish macular pigmentation about the macula, often with no other neurologic manifestation [32, 33, 39, 44–47]. Evidence of abnormal neural storage has been observed despite absence of neurologic abnormalities [48]. Two sisters without impaired mental development had inclusion bodies in exons and Schwann cells of rectal biopsies, and vacuolated macrophages in the cerebrospinal fluid (CSF) [48].
Neurocutaneous Syndromes With Interstitial Lung Disease
Published in Lourdes R. Laraya-Cuasay, Walter T. Hughes, Interstitial Lung Diseases in Children, 2019
Ataxia usually develops during infancy and is clinically recognized as soon as the infant is able to walk, but also, it is possible that it may not be observed until the child is 4 years of age. Although cerebellar ataxia has a variable progression and presentation, it ultimately leads to severe disability. Slurred speech gets increasingly worse with time. Tic-like movements and choreoathetosis may be present. Dysconjugate gaze, from irregular eye movements, may mimic ophthalmoplegia. Mask-like facies, strabismus, and excessive drooling have been described. Mental retardation is usually present. Muscle atrophy is secondary to muscle weakness.47
Effects of therapeutic exercise on disease severity, balance, and functional Independence among individuals with cerebellar ataxia: A systematic review with meta-analysis
Published in Physiotherapy Theory and Practice, 2023
Stanley Winser, Ho Kwan Chan, Wing Ki Chen, Chung Yau Hau, Siu Hang Leung, Yee Hang Leung, Umar Muhammad Bello
Cerebellar ataxia is a heterogeneous group of movement disorders caused by damage to the cerebellum or its connections (Marsden and Harris, 2011). Health conditions that result in ataxia are categorized as non-hereditary or hereditary degenerative, or due to an acquired underlying cause (Manto and Marmolino, 2009). The global prevalence of the dominant form of hereditary ataxia is 2.7 per 100,000 (Ruano, Melo, Silva, and Coutinho, 2014). Individuals with cerebellar ataxia report a significant decline in quality of life (Pérez-Flores, Hernández-Torres, Montón, and Nieto, 2020) and a greater reduction in the performance of activities of daily living (Miyai, 2012; Winser et al., 2020). Impaired balance is associated with all types of ataxias. Falls due to impaired balance is common among individuals with cerebellar ataxia and more than 70% of individuals with cerebellar ataxia experience at least one fall within 12 months (Fonteyn et al., 2010). Improving balance among the population is crucial for improving community participation and reducing healthcare costs associated with accidental falls (Winser et al., 2020). Besides poor balance, individuals with cerebellar ataxia present with incoordination of limb and eyeball movement, speech impairment and altered muscle tone (Manto and Marmolino, 2009).
Behavioral, histopathological, and biochemical evaluations on the effects of cinnamaldehyde, naloxone, and their combination in morphine-induced cerebellar toxicity
Published in Drug and Chemical Toxicology, 2022
Soraya Mahmoudi, Amir Abbas Farshid, Esmaeal Tamaddonfard, Mehdi Imani, Farahnaz Noroozinia
Cerebellum is situated in posterior cranial fossa and is divided into three major rejoins: flocculonodular lobe, vermis, and two hemispheres (Stoodley and Schmahmann 2018). This structure of the brain has various connections with spinal cord, brain stem, and subcortical and cortical areas and through a variety of neurotransmitters such as acetylcholine, dopamine, and serotonin mediates motor coordination, memory and learning, and pain processing (D’Angelo 2018). Cerebellar lesion may lead to cerebellar ataxia characterized by motor impairments, postural instability, and gait abnormality (Marsden 2018). For example, motor coordinations recorded by balance beam and open field tests have been found to be impaired after experimentally cerebellar hemorrhage induced by intra-cerebellum microinjection of collagenase type VII (Lekic et al. 2011).
Effects of dance-based movement therapy on balance, gait, and psychological functions in severe cerebellar ataxia: A case study
Published in Physiotherapy Theory and Practice, 2019
Yong-Gwan Song, Young-Uk Ryu, Seung-Jin Im, Ye-Seung Lee, Jin-Hoon Park
Cerebellar ataxia is a neurological symptom associated with damage to the cerebellum, and/or its afferent and efferent connections. It is caused by either focal cerebellar lesions (e.g. stroke and benign tumor) or degenerative diseases. Individuals with cerebellar ataxia typically experience the deterioration of motor control affecting body balance and limb coordination. In the case of degenerative cerebellar ataxia, these motor symptoms worsen over time because of the progressive nature of the disease. Individuals in the later stages of the disease are usually confined to a wheelchair or bed, a result of their immobility (Marsden and Harris, 2011; Morton et al, 2010). This motor impairment frequently affects the independence of patients in terms of their daily activities and their quality of life (QOL) (Schmitz-Hübsch et al, 2010).