Niemann-Pick disease
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop in 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].
‘In and Out of the Hole’
Ornella Corazza, Andres Roman-Urrestarazu in Handbook of Novel Psychoactive Substances, 2018
Acute mental health disturbances were observed among MXE users. Central and peripheral nervous system effects comprised agitation, aggression, anxiety, ataxia, cognitive impairment, confusion, dizziness, decreased ability to focus, depressive thoughts, drowsiness, hallucinations, hysteria, impaired motor coordination, insomnia, loss of consciousness, mania, paranoia, psychomotor agitation, shifts in perception of reality, slurred speech, seizures, suicidal ideation, stupor, tremors, and coma. Dissociative effects reported included catatonia, delusions, dystonia, hypertonia, tetanus, and visual hallucinations. Cerebellar adverse effects reported were cerebellar ataxia, disorientation, dysarthria, dysdiadochokinesis, lack of coordination, slurred speech and inability to speak, nystagmus, and tremors.
Disorders of Sensation, Motion, and Body Schema
Rolland S. Parker in Concussive Brain Trauma, 2016
The vermis controls structures that are axial or that are bilaterally innervated (i.e., station and gait)—walking and coordination of the head and trunk. A patient with a mild vermian lesion has gait ataxia, where the base is widened, tandem gait is very difficult, and there may be decompensation on turning. With truncal ataxia, there is swaying and unsteadiness when standing and an inability to maintain upright posture. There is little or no abnormality of the extremities, although all coordinated movements may be poorly performed. Patients are more variable on motor tasks that require precise temporal representation. A difference between sensory ataxia (loss of proprioception) and cerebellar ataxia is that while in sensory ataxia, performance is not normal with eyes open, it worsens markedly with eyes closed. Tremor is due to voluntary visually guided corrections to deviations from the intended track. With cerebellar ataxia, it makes little difference whether or not there is vision to guide movement (Campbell, 2005, pp. 522–524). Patients with varied cerebellar degeneration have difficulty in the expression and timing of a conditioned eyeblink response (Topka et al., 1993).
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).
The experiences of speech pathology referral and communicative participation in adults with cerebellar ataxia
Published in International Journal of Speech-Language Pathology, 2022
Allison Hilger, Kylie Dunne-Platero
Cerebellar ataxia is a movement disorder resulting from damage to the cerebellum, a neural structure critical for the timing, scaling, and sequencing of movement (Diener & Dichgans, 1992). Despite an incidence rate comparable with better known movement disorders such as amyotrophic lateral sclerosis, cerebellar ataxia is often misdiagnosed and poorly understood by healthcare professionals (Alonso & Hernán, 2008; Bird, 1993; Daker-White et al., 2013; Marin et al., 2017; Ruano et al., 2014). This gap in understanding and knowledge in healthcare can lead to frustration and mistrust for individuals with cerebellar ataxia, particularly for seeking out rehabilitation services like speech pathology. The goal of this study is to extend the work by Daker-White et al. (2013) on satisfaction with healthcare services in ataxia by specifically surveying individuals with ataxia about their access to and satisfaction with speech pathology, as well as factors that could impact communicative participation in ataxia.
The cannabinoid antagonist, AM251 attenuates Ataxia related deficiencies in a cerebellar ataxic model
Published in International Journal of Neuroscience, 2022
Hoda Ranjbar, Monavareh Soti, Kristi A. Kohlmeier, Vahid Sheibani, Meysam Ahmadi-Zeidabadi, Kiana Rafiepour, Mohammad Shabani
Cerebellar ataxia is a neurological disorder characterized with motor symptoms including lack of coordination in movements, instability in posture and gait abnormalities [1]. As a neurodegenerative disorder, the symptoms of cerebellar ataxia result as neurons are lost, and therefore, normal neuronal communication is severely compromised [2]. Over the past 5 years, research using molecular genetics has revolutionized the way by which cerebellar ataxia is classified and diagnosed as a progressive disease, however, to date there are no treatments which protect neurons from cell death or restore damaged nerve cells. One approach considered to prevent cell death in neurodegenerative disorders is to remove free radicals, inhibit the intracellular presence of cell death mediators or modulate ion channels [3]. Interestingly, cannabinoids have been shown to be neuroprotective through actions at the cannabinoid receptor type 1 (CB1) or type 2 (CB2), as well as at receptors/targets outside the endocannabinoid system [4].
Related Knowledge Centers
- Ataxia
- Autoimmunity
- Cerebellum
- Dysdiadochokinesia
- Dysmetria
- Dyssynergia
- Multiple System Atrophy
- Nystagmus
- Dysarthria
- NON-Progressive Congenital Ataxia