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Hereditary and Metabolic Diseases of the Central Nervous System in Adults
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
There are two major clinical phenotypes: Type A: progressive myoclonic epilepsy with associated: Dementia.Ataxia.Late pyramidal and extrapyramidal signs.Seizures are often uncontrollable.Type B: behavior abnormalities and dementia, with associated: Motor dysfunction.Ataxia.Extrapyramidal signs.Bulbar (brainstem) signs.Presenile form (over age 50) usually have type B symptoms.
The Nervous System and Its Disorders
Published in Walter F. Stanaszek, Mary J. Stanaszek, Robert J. Holt, Steven Strauss, Understanding Medical Terms, 2020
Walter F. Stanaszek, Mary J. Stanaszek, Robert J. Holt, Steven Strauss
Parkinson's disease (also called Parkinsonism or paralysis agitans) is a motor dysfunction characterized by stiff posture, tremor at rest, difficulty in initiating movements (bradykinesia), an expressionless face (masked faces), and a shuffling gait. Parkinson's disease results from a shortage of the neurotransmitter dopamine for neurons with their cell bodies in the substantia nigra. As a result of the dopamine deficiency, these brain cells do not perform their usual inhibitory function. Deficiency of a different neurotransmitter, gamma aminobutyric acid (GABA), is associated with Huntington's chorea.
Measurement in Developmental Therapy: Past, Present, and Future
Published in Lucy Jane Miller, Developing Norm-Referenced Standardized Tests, 2020
Researchers have also studied the factors contributing to motor development, to motor learning, and to skilled motor performance. Developmental therapists have been interested in studying the relationships between motor milestones, developmental reflexes and reactions, and “quality” of movement. Though interested, little advancement has been made in the measurement of motor dysfunction or progress during therapy. Undoubtedly, progress has been slow in part because of the tremendous complexity involved in sorting out the many factors, both sensory and motor, that contribute to skilled motor performance. “Quality” of movement is difficult to capture and describe because it does not consist of a single factor, but rather is a jargon term inclusive of coordination, postural control, and balance.5
Potential treatment of Parkinson’s disease with omega-3 polyunsaturated fatty acids
Published in Nutritional Neuroscience, 2022
Parkinson’s disease (PD), the second most prevalent neurodegenerative diseases, is characterized by the loss of dopamine (DA) neurons in the substantia nigra pars compacta (SNpc) and intracellular inclusions containing aggregates of α-synuclein [1,2]. The major clinical characteristics are motor dysfunction, including bradykinesia, rigidity, tremor and disturbed balance [3]. At present, DA replacement therapy is widely used to improve these motor symptoms but does not secure neurodegeneration and delay stop disease progression [4]. Although aging, ethnicity, genetic susceptibility and environmental risk factors were thought to be associated with PD, the etiology and pathogenesis of PD have not been fully elucidated [5–7]. The underlying molecular pathogenesis of PD involves multiple pathways and mechanisms, including α-synuclein proteostasis [8], mitochondrial dysfunction [9], inflammation [10], oxidative stress [11], abrogation of the autosomal-lysomal autophagy system [12], as well as endoplasmic reticulum stress [12].
Effects of Inspiratory Muscle and Balance Training in Children with Hemiplegic Cerebral Palsy: A Randomized Controlled Trial
Published in Developmental Neurorehabilitation, 2022
Büşra Kepenek-Varol, Hülya Nilgün Gürses, Dilara Füsun İçağasıoğlu
Motor dysfunction in CP causes activity limitations, and because of its clinical importance, most treatment approaches focus on improving motor function and physical capacity.5 However, children with CP are at risk for respiratory impairments, besides the motor problems. Respiratory problems, which are common in CP, contribute to increased morbidity and mortality, and a variety of factors such as deformity of the spine and chest wall, impaired airway clearance, recurrent aspiration, a poor cough mechanism, and nutritional status affect respiratory status in CP.6 Abnormality of pulmonary function such as poor airway clearance, respiratory muscle weakness, and decreased chest mobility can be observed in children with CP.7,8 Past research suggests that the pulmonary function of children with CP is decreased when compared to typically developing children,9 and in a few limited studies, respiratory muscle weakness was reported in children with CP.9–11 Respiratory muscle strength is related to the severity of motor impairment and decreases with the severity of motor function in children with CP.8,12 According to Kwon et al.,13 children with diplegic CP have lower respiratory muscle strength than children with hemiplegic CP.
Early loss of cerebellar Purkinje cells in human and a transgenic mouse model of Alzheimer’s disease
Published in Neurological Research, 2021
Kiran Chaudhari, Linshu Wang, Jonas Kruse, Ali Winters, Nathalie Sumien, Ritu Shetty, Jude Prah, Ran Liu, Jiong Shi, Michael Forster, Shao-Hua Yang
There is growing indications that motor dysfunction may occur early during the preclinical stage of AD [16,30]. A longitudinal cohort study with annually repeated evaluations over 10 years demonstrated that MCI patients also had impaired motor function, including gait and balance, and that the degree of impairment of lower extremity function was related to the risk of AD [31]. We observed a significant loss of cerebellar Purkinje cells in both MCI and AD patients in the current study. Our study indicated that loss of Purkinje cells could occur at the early stage of AD as there were significantly fewer Purkinje cells in MCI patients than controls. In addition to Purkinje cell loss, the impaired function of existing cerebellar Purkinje cells in transgenic AD mice has been reported to lose large-amplitude miniature inhibitory postsynaptic currents [3243,4445].