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Fulltext Tuning attention based long-short term memory neural networks for Parkinson's disease detection using modified metaheuristics

Cuk A, Bezdan T, Jovanovic L, Antonijevic M, Stankovic M, Simic V, et al.

Sci Rep, 2024 Feb 21;14(1):4309.
PMID: 38383690 DOI: 10.1038/s41598-024-54680-y

Parkinson's disease (PD) is a progressively debilitating neurodegenerative disorder that primarily affects the dopaminergic system in the basal ganglia, impacting millions of individuals globally. The clinical manifestations of the disease include resting tremors, muscle rigidity, bradykinesia, and postural instability. Diagnosis relies mainly on clinical evaluation, lacking reliable diagnostic tests and being inherently imprecise and subjective. Early detection of PD is crucial for initiating treatments that, while unable to cure the chronic condition, can enhance the life quality of patients and alleviate symptoms. This study explores the potential of utilizing long-short term memory neural networks (LSTM) with attention mechanisms to detect Parkinson's disease based on dual-task walking test data. Given that the performance of networks is significantly inductance by architecture and training parameter choices, a modified version of the recently introduced crayfish optimization algorithm (COA) is proposed, specifically tailored to the requirements of this investigation. The proposed optimizer is assessed on a publicly accessible real-world clinical gait in Parkinson's disease dataset, and the results demonstrate its promise, achieving an accuracy of 87.4187 % for the best-constructed models.

Matched MeSH terms: Basal Ganglia
Biotin-thiamine responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of cases in Kuwait with novel variants

Aburezq M, Alahmad A, Alsafi R, Al-Tawari A, Ramadan D, Shafik M, et al.

Orphanet J Rare Dis, 2023 Sep 05;18(1):271.
PMID: 37670342 DOI: 10.1186/s13023-023-02888-y

BACKGROUND: Biotin-thiamine-responsive basal ganglia disease (BTBGD) is a rare autosomal recessive neurometabolic disorder that is caused by biallelic pathogenic SLC19A3 variants and is characterized by subacute encephalopathy associated with confusion, convulsions, dysphagia, dysarthria, or other neurological manifestations.
METHODS: A retrospective review of the data registry in Kuwait Medical Genetics Center for all cases diagnosed clinically and radiographically and confirmed genetically with BTBGD.
RESULTS: Twenty one cases from 13 different families were diagnosed with BTBGD in Kuwait. Most cases (86%) presented with confusion, dystonia, convulsions, or dysarthria, while three individuals were diagnosed pre-symptomatically during familial targeted genetic screening. Symptoms resolved completely within 2-week of treatment in two-thirds of the symptomatic cases but progressed in six of them to a variety of severe symptoms including severe cogwheel rigidity, dystonia and quadriparesis due to delayed presentation and management. Neuroradiological findings of the symptomatic cases revealed bilateral central changes in the basal ganglia. Two novel homozygous missense SLC19A3 variants were detected in a Kuwaiti and a Jordanian individuals, in addition to the previously reported Saudi founder homozygous variant, c.1264A > G; p.(Thr422Ala) in the remaining cases. Age of diagnosis ranged from newborn to 32 years, with a median age of 2-3 years. All cases are still alive receiving high doses of biotin and thiamine.
CONCLUSION: This is the first study reporting the phenotypic and genotypic spectrum of 21 individuals with BTBGD in Kuwait and describing two novel SLC19A3 variants. BTBGD is a treatable neurometabolic disease that requires early recognition and treatment initiation. This study highlights the importance of performing targeted molecular testing of the founder variant in patients presenting with acute encephalopathy in the region.

Matched MeSH terms: Basal Ganglia Diseases*
Movement disorder in a patient with stroke

Tai ML, Tan CT, Ramli N, Begum RJ, Lim SY

J Clin Neurosci, 2011 Feb;18(2):263, 305.
PMID: 21294301
Matched MeSH terms: Basal Ganglia Cerebrovascular Disease/complications*; Basal Ganglia Cerebrovascular Disease/pathology*
Fulltext Germinoma of the basal ganglia and thalamus--CT and MRI findings

Wong LW, Jayakumar CR

Singapore Med J, 1997 Oct;38(10):444-6.
PMID: 9529959

A case of germinoma originating in the basal ganglia and thalamus is presented. This tumour most commonly originates during childhood and adolescence, at pineal and suprasellar regions. In the early stages, the diagnosis of germinoma in the basal ganglion and thalamus is difficult because of its rarity and non-specific findings. The computed tomography (CT) and magnetic resonance imaging (MRI) findings though non-diagnostic, are discussed here. A few differential diagnoses had been discussed with radiological abnormality. Open biopsy done in this case proved to be two-cell pattern germinoma. Early detection of the tumour is desirable, since this tumour is highly sensitive to radio and chemotherapy and is potentially curable. Our patient was treated with combined chemotherapy and the response was well and no residual tumour or recurrence was seen on the repeated imaging modality, however his neurological deficits remained unchanged.

Matched MeSH terms: Basal Ganglia/pathology*; Basal Ganglia/radiography
Fulltext Unilateral striatal CT and MRI changes secondary to non-ketotic hyperglycaemia

Johari B, Hanafiah M, Shahizon AM, Koshy M

BMJ Case Rep, 2014;2014.
PMID: 24792025 DOI: 10.1136/bcr-2014-204053

A 62-year-old man presented with a right-sided hemichorea-hemiballismus secondary to underlying non-ketotic hyperglycaemia. This condition is recognised to have a unique finding of unilateral basal ganglia lesion, which is hyperdense on CT and hyperintense on T1-weighted MRI. The clinical course of this condition is benign and has a good prognosis with early correction of the hyperglycaemia.

Matched MeSH terms: Basal Ganglia/pathology; Basal Ganglia/radiography
Fulltext Leigh syndrome: MRI findings in two children

Kartikasalwah A, Lh N

Biomed Imaging Interv J, 2010 Jan-Mar;6(1):e6.
PMID: 21611066 MyJurnal DOI: 10.2349/biij.6.1.e6

Leigh syndrome is a progressive neurodegenerative disorder of childhood. The symmetrical necrotic lesions in the basal ganglia and/or brainstem which appear as hyperintense lesions on T2-weighted MRI is characteristic and one of the essential diagnostic criteria. Recognising this MR imaging pattern in a child with neurological problems should prompt the clinician to investigate for Leigh syndrome. We present here two cases of Leigh syndrome due to different biochemical/genetic defects, and discuss the subtle differences in their MR neuroimaging features.

Matched MeSH terms: Basal Ganglia
Toluene-induced leukodystrophy from glue sniffing

Lau YH, Mawardi AS, Zain NR, Viswanathan S

Pract Neurol, 2021 Oct;21(5):439-441.
PMID: 34039751 DOI: 10.1136/practneurol-2021-002942

A 33-year-old man with a history of chronic toluene abuse through glue sniffing, developed tremors, cerebellar signs and cognitive decline. MR scan of the brain showed global cerebral and cerebellar atrophy with symmetrical T2-weighted hypointensities in the basal ganglia, thalami and midbrain. After stopping glue sniffing, his tremors, ataxia of gait, speech and cognition partially improved. Early recognition and intervention of toluene-induced leukodystrophy could prevent ongoing morbidity and premature mortality.

Matched MeSH terms: Basal Ganglia
Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome

Wortmann SB, van Hasselt PM, Barić I, Burlina A, Darin N, Hörster F, et al.

Neuropediatrics, 2015 Apr;46(2):98-103.
PMID: 25642805 DOI: 10.1055/s-0034-1399755

Pediatric movement disorders are still a diagnostic challenge, as many patients remain without a (genetic) diagnosis. Magnetic resonance imaging (MRI) pattern recognition can lead to the diagnosis. MEGDEL syndrome (3-MethylGlutaconic aciduria, Deafness, Encephalopathy, Leigh-like syndrome MIM #614739) is a clinically and biochemically highly distinctive dystonia deafness syndrome accompanied by 3-methylglutaconic aciduria, severe developmental delay, and progressive spasticity. Mutations are found in SERAC1, encoding a phosphatidylglycerol remodeling enzyme essential for both mitochondrial function and intracellular cholesterol trafficking. Based on the homogenous phenotype, we hypothesized an accordingly characteristic MRI pattern. A total of 43 complete MRI studies of 30 patients were systematically reevaluated. All patients presented a distinctive brain MRI pattern with five characteristic disease stages affecting the basal ganglia, especially the putamen. In stage 1, T2 signal changes of the pallidum are present. In stage 2, swelling of the putamen and caudate nucleus is seen. The dorsal putamen contains an "eye" that shows no signal alteration and (thus) seems to be spared during this stage of the disease. It later increases, reflecting progressive putaminal involvement. This "eye" was found in all patients with MEGDEL syndrome during a specific age range, and has not been reported in other disorders, making it pathognomonic for MEDGEL and allowing diagnosis based on MRI findings.

Matched MeSH terms: Basal Ganglia/pathology*
Antipsychotic treatment in older schizophrenia patients with extrapyramidal side effects in Asia (2001 - 2009)

Xiang YT, Kreyenbuhl J, Dickerson FB, Ungvari GS, Wang CY, Si TM, et al.

Int J Clin Pharmacol Ther, 2012 Jul;50(7):500-4.
PMID: 22541750 DOI: 10.5414/CP201683

This study surveyed the prescribing patterns of antipsychotic medications in Asian older schizophrenia patients with extrapyramidal side effects (EPS) during the period between 2001 and 2009.

Matched MeSH terms: Basal Ganglia Diseases/chemically induced*
Fulltext Palm Fruit Bioactives augment expression of Tyrosine Hydroxylase in the Nile Grass Rat basal ganglia and alter the colonic microbiome

Weinberg RP, Koledova VV, Subramaniam A, Schneider K, Artamonova A, Sambanthamurthi R, et al.

Sci Rep, 2019 Dec 09;9(1):18625.
PMID: 31819070 DOI: 10.1038/s41598-019-54461-y

Tyrosine hydroxylase (TH) catalyzes the hydroxylation of L-tyrosine to L-DOPA. This is the rate-limiting step in the biosynthesis of the catecholamines - dopamine (DA), norepinephrine (NE), and epinephrine (EP). Catecholamines (CA) play a key role as neurotransmitters and hormones. Aberrant levels of CA are associated with multiple medical conditions, including Parkinson's disease. Palm Fruit Bioactives (PFB) significantly increased the levels of tyrosine hydroxylase in the brain of the Nile Grass rat (NGR), a novel and potentially significant finding, unique to PFB among known botanical sources. Increases were most pronounced in the basal ganglia, including the caudate-putamen, striatum and substantia nigra. The NGR represents an animal model of diet-induced Type 2 Diabetes Mellitus (T2DM), exhibiting hyperglycemia, hyperinsulinemia, and insulin resistance associated with hyperphagia and accelerated postweaning weight gain induced by a high-carbohydrate diet (hiCHO). The PFB-induced increase of TH in the basal ganglia of the NGR was documented by immuno-histochemical staining (IHC). This increase in TH occurred equally in both diabetes-susceptible and diabetes-resistant NGR fed a hiCHO. PFB also stimulated growth of the colon microbiota evidenced by an increase in cecal weight and altered microbiome. The metabolites of colon microbiota, e.g. short-chain fatty acids, may influence the brain and behavior significantly.

Matched MeSH terms: Basal Ganglia/drug effects; Basal Ganglia/metabolism*
Normobaric hyperoxia treatment in traumatic brain injury: a focus on basal ganglia

Fatin Azwa Haruddin

Orient Neuron Nexus, 2010;1(1):13-16.
MyJurnal

Traumatic brain injury (TBI) is known to inflict significant morbidity and mortality worldwide. In severe TBI cases, the resulting physical and cognitive impairments incur high management and rehabilitation costs that crucially involve monitoring intracranial pressure (ICP) and improving brain oxygenation. Normobaric Hyperoxia Treatment (NBOT) is a therapeutic strategy to improve brain oxygen metabolism and to decrease ICP by reducing tissue swelling and deactivating toxin. NBOT is administered by increasing the inspired oxygen concentration to 100% in normal atmospheric pressure. Previous studies involving NBOT had explored its effectiveness to salvage the TBI-related cognitive and motor deficits. However, the focus of these studies has frequently been on the cortical lesions despite the known facts that TBI often inflicts tissue damage to the subcortical areas such as the basal ganglia. There are growing evidence to support recent functional theories that implicate a pivotal role of the basal ganglia in regulating normal movements and cognition through dopamine (DA) and glutamate interaction. Thus, tissue damages leading to TBI-related motor and cognitive deficits may involve the different affected brain regions. This minireview attempts to highlight the key processes involved in the pathophysiology of severe TBI and offers insights into the role of NBOT by exploring its potential effects on the cerebral energy metabolism and gene expression patterns of dopamine receptor in a mouse model.

Matched MeSH terms: Basal Ganglia
Fulltext A Brief Psychotic Episode with Depressive Symptoms in Silent Right Frontal Lobe Infarct

Badrin S, Mohamad N, Yunus NA, Zulkifli MM

Korean J Fam Med, 2017 Nov;38(6):380-382.
PMID: 29209479 DOI: 10.4082/kjfm.2017.38.6.380

Psychiatric symptoms may be related to a silent cerebral infarct, a phenomenon that has been described previously in literature. Acute psychosis or other neuropsychiatric symptoms including depression may present in stroke patients and patients with lesions either within the prefrontal or occipital cortices, or in subcortical areas such as the basal ganglia, thalamus, mid-brain, and brainstem. Psychosis in clinical stroke or in silent cerebral infarction is uncommon and not well documented in the literature. Neurological deficits are the most common presentation in stroke, and nearly a third of patients that suffer a stroke may experience psychological disorders such as depression and anxiety, related to physical disability. The present case report describes an elderly female patient who presented with hallucinations and depressive symptoms, and was discovered to have a recent right frontal brain infarction, without other significant neurological deficits.

Matched MeSH terms: Basal Ganglia
Fulltext Altered trajectories of neurodevelopment and behavior in mouse models of Rett syndrome

Smith ES, Smith DR, Eyring C, Braileanu M, Smith-Connor KS, Ei Tan Y, et al.

Neurobiol Learn Mem, 2019 Nov;165:106962.
PMID: 30502397 DOI: 10.1016/j.nlm.2018.11.007

Rett Syndrome (RTT) is a genetic disorder that is caused by mutations in the x-linked gene coding for methyl-CpG-biding-protein 2 (MECP2) and that mainly affects females. Male and female transgenic mouse models of RTT have been studied extensively, and we have learned a great deal regarding RTT neuropathology and how MeCP2 deficiency may be influencing brain function and maturation. In this manuscript we review what is known concerning structural and coinciding functional and behavioral deficits in RTT and in mouse models of MeCP2 deficiency. We also introduce our own corroborating data regarding behavioral phenotype and morphological alterations in volume of the cortex and striatum and the density of neurons, aberrations in experience-dependent plasticity within the barrel cortex and the impact of MeCP2 loss on glial structure. We conclude that regional structural changes in genetic models of RTT show great similarity to the alterations in brain structure of patients with RTT. These region-specific modifications often coincide with phenotype onset and contribute to larger issues of circuit connectivity, progression, and severity. Although the alterations seen in mouse models of RTT appear to be primarily due to cell-autonomous effects, there are also non-cell autonomous mechanisms including those caused by MeCP2-deficient glia that negatively impact healthy neuronal function. Collectively, this body of work has provided a solid foundation on which to continue to build our understanding of the role of MeCP2 on neuronal and glial structure and function, its greater impact on neural development, and potential new therapeutic avenues.

Matched MeSH terms: Basal Ganglia/pathology
Treatment with olanzapine, risperidone or typical antipsychotic drugs in Asian patients with schizophrenia

Lee C, Wu KH, Habil H, Dyachkova Y, Lee P

Aust N Z J Psychiatry, 2006 May;40(5):437-45.
PMID: 16683970

To examine clinical outcomes in Asian patients with schizophrenia receiving monotherapy with olanzapine, risperidone or typical antipsychotics in naturalistic settings.

Matched MeSH terms: Basal Ganglia Diseases/chemically induced; Basal Ganglia Diseases/epidemiology
Fulltext Limited Evaluation of Image Quality Produced by a Portable Head CT Scanner (CereTom) in a Neurosurgery Centre

Abdullah AC, Adnan JS, Rahman NA, Palur R

Malays J Med Sci, 2017 Mar;24(1):104-112.
PMID: 28381933 DOI: 10.21315/mjms2017.24.1.11

INTRODUCTION: Computed tomography (CT) is the preferred diagnostic toolkit for head and brain imaging of head injury. A recent development is the invention of a portable CT scanner that can be beneficial from a clinical point of view.
AIM: To compare the quality of CT brain images produced by a fixed CT scanner and a portable CT scanner (CereTom).
METHODS: This work was a single-centre retrospective study of CT brain images from 112 neurosurgical patients. Hounsfield units (HUs) of the images from CereTom were measured for air, water and bone. Three assessors independently evaluated the images from the fixed CT scanner and CereTom. Streak artefacts, visualisation of lesions and grey-white matter differentiation were evaluated at three different levels (centrum semiovale, basal ganglia and middle cerebellar peduncles). Each evaluation was scored 1 (poor), 2 (average) or 3 (good) and summed up to form an ordinal reading of 3 to 9.
RESULTS: HUs for air, water and bone from CereTom were within the recommended value by the American College of Radiology (ACR). Streak artefact evaluation scores for the fixed CT scanner was 8.54 versus 7.46 (Z = -5.67) for CereTom at the centrum semiovale, 8.38 (SD = 1.12) versus 7.32 (SD = 1.63) at the basal ganglia and 8.21 (SD = 1.30) versus 6.97 (SD = 2.77) at the middle cerebellar peduncles. Grey-white matter differentiation showed scores of 8.27 (SD = 1.04) versus 7.21 (SD = 1.41) at the centrum semiovale, 8.26 (SD = 1.07) versus 7.00 (SD = 1.47) at the basal ganglia and 8.38 (SD = 1.11) versus 6.74 (SD = 1.55) at the middle cerebellar peduncles. Visualisation of lesions showed scores of 8.86 versus 8.21 (Z = -4.24) at the centrum semiovale, 8.93 versus 8.18 (Z = -5.32) at the basal ganglia and 8.79 versus 8.06 (Z = -4.93) at the middle cerebellar peduncles. All results were significant with P-value < 0.01.
CONCLUSIONS: Results of the study showed a significant difference in image quality produced by the fixed CT scanner and CereTom, with the latter being more inferior than the former. However, HUs of the images produced by CereTom do fulfil the recommendation of the ACR.

Matched MeSH terms: Basal Ganglia

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