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Hyperkinetic Movement Disorders
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
Morales-Briceno Hugo, Victor S.C. Fung, Annu Aggarwal, Philip Thompson
Metabolic: Thiamine responsive basal ganglia disease.Mitochondrial thiamine transporter deficiency.Lesch–Nyhan syndrome (LNS).Glucose transporter type 1 deficiency (GLUT1).
Motor problems in Parkinson’s disease: fluctuations, gait, balance and falls
Published in Jeremy Playfer, John Hindle, Andrew Lees, Parkinson's Disease in the Older Patient, 2018
Helen Roberts, Peter Overstall
Most common tasks require frequent turns, and turning while walking is a potent source of akinetic blocks, leading to freezing episodes and falls. Disordered axial movement also shows up as difficulty in turning over in bed, and its presence appears to be related more to the duration of disease than the age of onset.48 Although difficulty in turning in bed is regarded as a characteristic feature of PD it is not diagnostic, as it can be found in 9% of healthy elderly subjects and in 38% of elderly patients without neurological disease attending a geriatric day hospital.49 Difficulty in turning over in bed is not an apraxia, but is due to bradykinesia and disruption of the normal limb and trunk synergies. Thus it can be regarded, along with disordered gait and loss of arm swing when walking, as another example of basal ganglia disease causing loss of sequencing of a well-practised, automatic movement. Difficulty in turning in bed is associated significantly with disturbed gait, postural instability, difficulty in rising from a chair, whole-body bradykinesia and axial rigidity. All of these axial motor impairments respond to levodopa.48
Psychosis in the elderly — co-morbidity and disability: focus on basal ganglia diseases
Published in Anne M. Hassett, David Ames, Edmond Chiu, Psychosis in the Elderly, 2005
Cummings (1985) documented some 70 conditions implicated in the pro-duction of delusions. Central nervous system (CNS) disorders, in particular of the basal ganglia, temporal limbic regions, lesions of the temporal lobes and subcortical regions have been implicated. While neoplastic and vascular lesions impacting on these areas are readily understood through the neu- roanatomical correlations of these destructive lesions, the occurrence of psychotic symptoms in basal ganglia diseases such as Parkinson's disease, basal ganglia calcification, and Huntington's disease has added to the understanding of the evolution of psychotic symptoms co-occurring with these pathologies, contributes to current knowledge of the role of the basal ganglia in psychotic symptoms, and leads to the conceptualization of the spectrum 'Lewy bodies disorders' (Hishikawa et al, 2003).
Sense and nonsense concerning biotin interference in laboratory tests
Published in Acta Clinica Belgica, 2022
Alena Moerman, Joris R. Delanghe
Biotin is a water soluble vitamin/micronutrient and a coenzyme to 5 carboxylases. It is also covalently bound to lysine residues in histones. Because of this, it plays a role in the epigenetic regulation of genes, the structure of chromatin and cell signaling. Mammals cannot produce biotin and are consequently fully dependent on intake through the nutrition. Normal daily intake in western countries ranges from 35 to 70 µg per day, which lies above the daily recommended 5 to 35 µg. Our western intake pattern results in serum concentrations ranging from 0.12 to 0.36 nmol/L [4]. Rarely, people can be deficient in biotin. This shortage occurs in biotinidase deficiency (1/60089 living births) and severely malnourished children. Treatment of such a deficiency consists of 5 to 30 mg biotin per day. Biotin-thiamin-responsive basal ganglia disease is a condition that affects the nervous system. This is also treated with high dose biotin, namely 5 to 10 mg per day. In conclusion, it is unnecessary for healthy subjects to use biotin supplements. However, marketeers have made convenient use of the property of biotin to promote protein synthesis and thereby also keratin production. Supplements are available in all seizes and weights with concentrations ranging from 50 µg in multivitamin preparations to 20 mg in preparations specifically targeting growth and quality of hair and nails. Proof of this claims is however lacking, with only very little scientific evidence of any beneficial effect [5,6].
Effects of utterance rate and length on the spatiotemporal index in Parkinson’s disease
Published in International Journal of Speech-Language Pathology, 2020
Shin Ying Chu, Steven M. Barlow, Jaehoon Lee, Jingyan Wang
Most of the PD participants tested in the present study demonstrated normal speech intelligibility scores (>95% SIT scores), with 40% of them were judged within normal speech production (subjective perceptual scores). As basal ganglia disease advances, resources for neural compensation and motor reorganisation are progressively limited and accompanied by reductions in speech intelligibility. Future studies will benefit from a longitudinal and or cross-sectional design involving larger numbers of patients to classify the speech motor reorganisation patterns at different stages of PD to fully address issues relating speech intelligibility, UPDRS staging and quantitative measures of speech motor control. In addition, the current findings underscore the importance of examining individual differences within individuals with PD. For group comparison between variables, we simply pooled and contrasted test results with controls. Follow-up study will benefit from an examination of the differences related to pre- and post-Levodopa treatment in a repeated measures design which will also generate much-needed data of reliability of measurement techniques.
Clinical presentation of a neuropsychiatric lupus patient with symmetrical basal ganglia lesions containing cytotoxic oedema cores surrounded by vasogenic oedema
Published in Modern Rheumatology Case Reports, 2020
Syoko Tsubouchi, Haeru Hayashi, Koichiro Tahara, Kayo Ishii, Takuya Yasuda, Yusuke Yamamoto, Takahiro Mizuuchi, Hiroaki Mori, Mayu Tago, Eri Kato, Tetsuji Sawada
Although brain MRI abnormalities in patients with NPSLE are reported to be heterogeneous, abnormalities in the basal ganglia are infrequently observed [24,25]. Luyendijk et al. retrospectively reviewed the MRI images of the first episode of active NPSLE in 74 patients and identified distinct brain MRI patterns, including focal hyperintensities in white matter (49%) or both white matter and grey matter (5%), presumably caused by vasculopathy or vasculitis, including more widespread, confluent hyperintensities in white matter, suggestive of chronic hypoperfusion; diffuse cortical grey matter lesions (12%), compatible with an immune response to neuronal components or post-seizure changes; absence of MRI abnormalities, despite signs and symptoms of active disease (42%) [15]. Arinuma et al. also reviewed brain MRI scans in 53 patients with diffuse NPSLE and found that multiple small white matter hyperintensities were the most prevalent abnormalities (88%), while grey matter hyperintensities were less frequently detected, but present in the hippocampus, basal ganglia, cerebellum (28%), often concurrently with white matter hyperintensities [16]. As for functional brain imaging, cerebral hypoperfusion abnormalities, as detected by SPECT, were reported in various brain regions including parietal lobes (65–80%), frontal lobes (57–65%), temporal lobes (46–57%) and basal ganglia (12–30%) in a descending order of frequency [26]. Given this infrequency of deep grey-matter abnormalities, this report of a patient with MRI abnormalities in the basal ganglia enhances our understanding of the pathogenesis of NPSLE. It should be noted that radiological basal ganglia lesions without the corresponding neurological deficits are also reported in patients with ADEM [27]. Thus, although bilateral ganglia and thalamus lesions are frequently described in cases of ADEM [28], associated extrapyramidal movement disorders appear to be uncommon [29]. An exception is poststreptococcal ADEM, which results in a dystonic extrapyramidal movement disorder in 50% patients, presumably because of anti-basal ganglia auto-antibodies [30]. It is therefore suggested that acute inflammation may not necessarily lead to basal ganglia dysfunction by itself; rather, autoreactive anti-basal ganglia antibodies that affect neuronal function may play a role in autoimmune basal ganglia diseases, including NPSLE and poststreptococcal ADEM [31].