extrapyramidal features
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Author(s):  
Roshan Koul ◽  
Arjun Maria ◽  
Seema Alam

AbstractInvolvement of tongue is uncommon in Wilson's disease (WD) in early stages. This is usually seen late when the patient has an established neurological WD associated with dyskinesia, dystonia, and tremors. In this article, we presented two children with tongue involvement in which there were slow laterotrusion (side to side) and protrusion and retraction movements. In the first child this was the early and only manifestation without any other neurological features while in the second child this was seen in a previously diagnosed WD. Slow tongue movements in any child with or without extrapyramidal features should be investigated to rule out a treatable condition like WD. Tongue involvement is common in children with different neurological/neuromuscular diseases, drugs, and other unknown conditions.


Author(s):  
Indar Kumar Sharawat ◽  
Prateek Kumar Panda ◽  
Niladri Sekhar Bhunia ◽  
Lesa Dawman

Abstract Background Spinocerebellar ataxias (SCAs) are a diverse group of progressive neurodegenerative disorders. Until now, more than 20 genes have been implicated to be associated with this phenotype and TGM6 is one of these genes, associated with spinocerebellar ataxia-35 (SCA-35). The majority of disease-causing variants in the TGM6 gene predominantly have been reported from China and Taiwan and the association with Parkinson's disease (PD) have also been reported recently. Methods We report the first Indian case with SCA-35 in a 16-year-old-boy with atypical age of onset at 9 years, prominent extrapyramidal features, intellectual disability, and a novel missense mutation in the TGM6 gene. We also reviewed and collated all previously published cases with pathogenic TGM6 variants. Results Including the index case, 54 cases were identified from 10 relevant articles in literature and 48 cases had adequate clinical details to be included in the pooled analysis. Around two-thirds of reported cases had SCA-35 phenotype, with cerebellar atrophy. Onset in the majority of cases was the fourth decade of life onwards. A proportion of SCA-35 cases also had spasmodic torticollis, impaired proprioception, extrapyramidal features, and myoclonic jerks. The patients with PD had often early-onset milder symptoms, slower progression, and favorable response to levodopa/carbidopa. One patient each presented with episodic ataxia and dystonic tremor of the upper limb. Most of the cases had missense mutations, without any definite hotspot or genotype–phenotype correlation. Conclusions TGM6 mutation should be suspected in patients with SCA like presentation, especially when it is accompanied by extrapyramidal features, spasmodic torticollis, impaired proprioception, or myoclonus.


2021 ◽  
Vol 21 (4) ◽  
pp. 276-283
Author(s):  
Duncan Wilson ◽  
Campbell Le Heron ◽  
Tim Anderson

Corticobasal syndrome is a disorder of movement, cognition and behaviour with several possible underlying pathologies, including corticobasal degeneration. It presents insidiously and is slowly progressive. Clinicians should consider the diagnosis in people presenting with any combination of extrapyramidal features (with poor response to levodopa), apraxia or other parietal signs, aphasia and alien-limb phenomena. Neuroimaging showing asymmetrical perirolandic cortical changes supports the diagnosis, while advanced neuroimaging may give insight into the underlying pathology. Identifying corticobasal syndrome carries some management implications (especially if protein-based treatments arise in the future) and prognostic significance. Its treatment is largely symptomatic and is best undertaken within a multidisciplinary setting, including a neurologist, physiotherapist, occupational therapist, speech language therapist, psychiatrist and, ultimately, a palliative care clinician. Corticobasal syndrome can be a confusing entity for neurologists, not least because it has over time evolved from being considered predominantly as a movement disorder to a condition spanning a wide range of cognitive and motor manifestations. In this practical review, we attempt to disentangle this syndrome and provide clarity around diagnosis, its underlying pathological substrates, key clinical features and potential treatments.


Author(s):  
Prateek Kumar Panda ◽  
Indar Kumar Sharawat ◽  
Rishi Bolia

Abstract Primary neuroleptospirosis although rare but has been reported in the literature in the form of case reports and case series. However, there are no reports of autoimmune encephalitis triggered by leptospirosis in the literature, although four cases of acute disseminated encephalomyelitis, which is also considered to have autoimmune etiology have been reported. We are reporting an adolescent girl, who developed anti-N-methyl-d-aspartate receptor encephalitis after the resolution of systemic symptoms of leptospirosis. Her symptoms including neuropsychiatric and extrapyramidal features and sleep disturbances resolved completely after immunotherapy. As recently autoimmune encephalitis triggered by various infections are getting reported more frequently around the world, the clinicians need to consider this clinical possibility, even in patients with leptospirosis, who develop neurological symptoms while systemic clinical features are subsiding. Early recognition and timely administration of immunotherapy have the potential to completely reverse the neurological symptoms.


Antioxidants ◽  
2020 ◽  
Vol 9 (10) ◽  
pp. 1020 ◽  
Author(s):  
Isabel Hinarejos ◽  
Candela Machuca ◽  
Paula Sancho ◽  
Carmen Espinós

The syndromes of neurodegeneration with brain iron accumulation (NBIA) encompass a group of invalidating and progressive rare diseases that share the abnormal accumulation of iron in the basal ganglia. The onset of NBIA disorders ranges from infancy to adulthood. Main clinical signs are related to extrapyramidal features (dystonia, parkinsonism and choreoathetosis), and neuropsychiatric abnormalities. Ten NBIA forms are widely accepted to be caused by mutations in the genes PANK2, PLA2G6, WDR45, C19ORF12, FA2H, ATP13A2, COASY, FTL1, CP, and DCAF17. Nonetheless, many patients remain without a conclusive genetic diagnosis, which shows that there must be additional as yet undiscovered NBIA genes. In line with this, isolated cases of known monogenic disorders, and also, new genetic diseases, which present with abnormal brain iron phenotypes compatible with NBIA, have been described. Several pathways are involved in NBIA syndromes: iron and lipid metabolism, mitochondrial dynamics, and autophagy. However, many neurodegenerative conditions share features such as mitochondrial dysfunction and oxidative stress, given the bioenergetics requirements of neurons. This review aims to describe the existing link between the classical ten NBIA forms by examining their connection with mitochondrial impairment as well as oxidative stress and neuroinflammation.


Neurogenetics ◽  
2019 ◽  
Vol 21 (1) ◽  
pp. 51-58 ◽  
Author(s):  
R. Palvadeau ◽  
Z. E. Kaya-Güleç ◽  
G. Şimşir ◽  
A. Vural ◽  
Ö. Öztop-Çakmak ◽  
...  

2019 ◽  
Vol 86 (5) ◽  
pp. 695-703 ◽  
Author(s):  
Tory P. Johnson ◽  
H. Benjamin Larman ◽  
Myoung‐Hwa Lee ◽  
Stephen S. Whitehead ◽  
Jeffrey Kowalak ◽  
...  

2019 ◽  
Vol 65 ◽  
pp. 91-96 ◽  
Author(s):  
Giovanna De Michele ◽  
Maria Lieto ◽  
Daniele Galatolo ◽  
Elena Salvatore ◽  
Sirio Cocozza ◽  
...  

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