keyword
https://read.qxmd.com/read/38476853/a-case-presentation-of-paroxysmal-hypnogenic-dyskinesia-clinical-features-and-management
#1
Selahattin Ayas
UNLABELLED: Paroxysmal Hypnogenic Dyskinesia (PHD) is a rare movement disorder characterized by involuntary movements, including chorea, athetosis, ballismus, and dystonia, which occur during the Non-Rapid Eye Movement (NREM) sleep stage. Therefore, the diagnosis of PHD is highly crucial due to the presence of differential diagnoses such as epilepsy and other sleep disorders. Although numerous mutations have been identified, the etiology of PHD, which arises from dysregulation in basal ganglia functions, remains unclear...
January 2024: Sleep and Biological Rhythms
https://read.qxmd.com/read/38046771/driving-under-the-influence-an-unusual-case-of-basal-ganglia-stroke-misdiagnosed-as-intoxication
#2
Faiza Butt, Kulsoom Durrani, Muhammad N Khan, Abdul Waheed
Traditionally, strokes are characterized by negative symptoms, including contralateral hemiparesis, facial paralysis, and sensory loss in the upper face and upper extremities. Strokes rarely cause movement disorders such as ballismus, a severe chorea characterized by brief, sudden dance-like movements. Early identification of non-traditional stroke symptoms and risk factors for cerebrovascular disease is vital in providing timely treatment and improving patient outcomes. Our case highlights an uncommon complication of stroke and the need to use advanced imaging modalities, including MRI, to identify brain lesions when other testing is negative...
November 2023: Curēus
https://read.qxmd.com/read/37810989/catching-the-culprit-how-chorea-may-signal-an-inborn-error-of-metabolism
#3
REVIEW
Juan Darío Ortigoza-Escobar
BACKGROUND: Movement disorders, particularly chorea, are uncommon in inborn errors of metabolism, but their identification is essential for improved clinical outcomes. In this context, comprehensive descriptions of movement disorders are limited and primarily derived from single cases or small patient series, highlighting the need for increased awareness and additional research in this field. METHODS: A systematic review was conducted using the MEDLINE database and GeneReviews...
2023: Tremor and Other Hyperkinetic Movements
https://read.qxmd.com/read/36891113/childhood-movement-disorders-clinicoetiological-pattern-and-long-term-follow-up-at-tertiary-care-center-from-south-india
#4
JOURNAL ARTICLE
Navya N Parameshwarappa, Vykuntaraju K Gowda, Sanjay K Shivappa
OBJECTIVES: Movement disorders are common neurological problems. There is a considerable delay in the diagnosis of movement disorders which indirectly indicates their under-recognition. The studies regarding relative frequencies and their underlying etiology are limited. Describing and classifying them with a diagnosis helps in treating the condition. To study the clinical pattern of various movement disorders in children and to establish their etiology and outcome. MATERIALS AND METHODS: This observational study was conducted in tertiary care hospital from January 2018 to June 2019...
2023: Journal of Neurosciences in Rural Practice
https://read.qxmd.com/read/36762000/hypoglycemic-encephalopathy-manifesting-with-cortical-hemichorea-hemiballismus-syndrome-a-case-report
#5
Francesco Pasini, Aristotelis Karantzoulis, Gaia Fanella, Francesco Brovelli, Davide Iacobucci, Vittoria Aprea, Benedetta Storti, Francesco Santangelo, Francesco Canonico, Paolo Remida, Carlo Ferrarese, Laura Brighina
Hyper-/hypoglycemic states are rare but well-established causes of hyperkinetic movements, including chorea and ballismus, usually associated with brain lesions in the basal ganglia. We report a case of hemichorea-hemiballismus (HCHB) syndrome that developed after a severe hypoglycemic episode in a 71-year-old man with poorly controlled type 2 diabetes mellitus. Uncommonly, brain MRI showed contralateral cortical-subcortical T2 and T2-FLAIR-hyperintense frontoparietal lesions, with cingulate gyrus involved, while the basal ganglia were unaffected...
2023: Case Reports in Neurology
https://read.qxmd.com/read/35785630/dystonia-chorea-hemiballismus-and-other-dyskinesias
#6
REVIEW
Matteo Bologna, Josep Valls-Solè, Nitish Kamble, Pramod Kumar Pal, Antonella Conte, Andrea Guerra, Daniele Belvisi, Alfredo Berardelli
Hyperkinesias are heterogeneous involuntary movements that significantly differ in terms of clinical and semeiological manifestations, including rhythm, regularity, speed, duration, and other factors that determine their appearance or suppression. Hyperkinesias are due to complex, variable, and largely undefined pathophysiological mechanisms that may involve different brain areas. In this chapter, we specifically focus on dystonia, chorea and hemiballismus, and other dyskinesias, specifically, levodopa-induced, tardive, and cranial dyskinesia...
August 2022: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://read.qxmd.com/read/35719774/non-ketotic-hyperglycemic-hemichorea-hemiballismus-a-case-of-a-male-with-diabetes-mellitus-and-speech-disturbances
#7
Catherine M Evers Smith, Kajol K Chaurasia, Daniel C Dekoski
Non-ketotic hyperglycemic chorea-ballismus is characterized by a triad of chorea-ballismus, non-ketotic hyperglycemic state, and striatopathy on magnetic resonance imaging (MRI) or computerized tomography scan (CT). Chorea and ballismus are hyperkinetic movements affecting the side contralateral to the striatal hyperintensity on imaging. This presentation is a manifestation of poorly controlled diabetes mellitus most commonly reported in elderly eastern Asian women. The exact mechanism is unknown, but it is reversible with optimal glycemic control...
May 2022: Curēus
https://read.qxmd.com/read/35095050/a-case-of-autoimmune-encephalitis-with-involuntary-movements-as-the-first-symptom-and-suspected-association-with-mumps-virus-infection
#8
JOURNAL ARTICLE
Masashi Hoshino, Rie Sasaki, Yoko Tsuchihashi, Yoshinobu Otsuka, Kenzo Sakurai, Yoshihisa Yamano
This case involved a 72-year-old woman. From the day after mitral annuloplasty, a fever over 37°C and ballismus-like involuntary movements of the right upper and lower limbs appeared. A few month later, involuntary movements spread throughout the body, and she developed impairment of consciousness and difficulty speaking and eating. Levels of protein in cerebrospinal fluid were high. Positive results were seen for serum mumps immunoglobulin G and M antibody. Because steroid pulse therapy proved effective, we suspected autoimmune encephalitis associated with mumps virus infection...
February 19, 2022: Rinshō Shinkeigaku, Clinical Neurology
https://read.qxmd.com/read/35002169/chorea-hyperglycemia-basal-ganglia-syndrome-a-rare-case-of-bilateral-chorea-ballismus-in-acute-non-ketotic-hyperglycemia
#9
JOURNAL ARTICLE
Aleksandra Ilic, Marija Semnic, Dragana Stefanovic, Vladimir Galic, Zeljko Zivanovic
No abstract text is available yet for this article.
September 2021: Annals of Indian Academy of Neurology
https://read.qxmd.com/read/34248493/non-ketotic-hyperglycemia-chorea-ballismus-and-intracerebral-hemorrhage-a-case-report-and-literature-review
#10
Mingming Dong, Jian-Yu E, Liyang Zhang, Weiyu Teng, Li Tian
Non-ketotic hyperglycemia chorea-ballismus (NKH-CB) is a rare metabolical syndrome secondary to the hyperglycemic condition, which is characterized by a triad of acute or subacute hemichorea-hemiballismus, hyperglycemic state, and unique abnormalities limited to the striatum on neuroimaging. Several related case studies on this disorder have been reported previously, but NKH-CB had never been associated with intracerebral hemorrhage (ICH). Herein, we report an uncommon case of NKH-CB and ICH that occurred simultaneously in one patient, which provides a challenge for clinicians in making a correct diagnosis...
2021: Frontiers in Neuroscience
https://read.qxmd.com/read/34134800/thyrotoxicosis-resulting-in-unilateral-upper-limb-chorea-and-ballismus
#11
JOURNAL ARTICLE
Ronda Lun, Margaret Moores, Tiago Mestre, Ari Breiner
No abstract text is available yet for this article.
May 2022: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
https://read.qxmd.com/read/33490948/association-of-early-onset-epileptic-encephalopathy-with-involuntary-movements-case-series-and-literature-review
#12
Atsuko Arisaka, Mitsuko Nakashima, Satoko Kumada, Kenji Inoue, Hiroya Nishida, Hideaki Mashimo, Hirofumi Kashii, Mitsuhiro Kato, Koichi Maruyama, Akihisa Okumura, Hirotomo Saitsu, Naomichi Matsumoto, Mitsumasa Fukuda
Epileptic-dyskinetic encephalopathies are rare epilepsies characterized by early-onset epileptic encephalopathies (EOEEs) with involuntary movement. Herein, we investigated the impact of gene variants in epileptic-dyskinetic encephalopathies. Four independent patients from four families who exhibited involuntary movements were recruited from Tokyo Metropolitan Neurological Hospital. The inclusion criteria were as follows: onset within 1 year after birth, frequent seizures, severe developmental delay and accompanying involuntary movements...
2021: Epilepsy & behavior reports
https://read.qxmd.com/read/31607891/the-effect-of-s-adenosylmethionine-treatment-on-neurobehavioral-phenotypes-in-lesch-nyhan-disease-a-case-report
#13
Ken Momosaki, Jun Kido, Shiro Matsumoto, Atsuo Taniguchi, Tomoyuki Akiyama, Takaaki Sawada, Shiro Ozasa, Kimitoshi Nakamura
Lesch-Nyhan disease (LND) is an X-linked recessive disorder caused by a deficiency in hypoxanthine-guanine phosphoribosyl transferase. Patients with LND experience involuntary movements, including dystonia, choreoathetosis, opisthotonos, ballismus, and self-injury. Alleviating these involuntary movements is important to improve the quality of life in patients with LND. Many clinicians have difficulty controlling these involuntary movements in their patients, and there are no established and effective treatments...
September 2019: Case Reports in Neurology
https://read.qxmd.com/read/31466019/cytosolic-non-vesicular-dopamine-accumulation-as-the-predominant-mechanism-for-developing-non-dopa-responsive-parkinsonism-in-late-stage-huntington-disease
#14
JOURNAL ARTICLE
Rafael Vincent M Manalo
Disturbances in motor movement can have similar clinical presentations, albeit having different pathways and temporal onset. Hypokinetic movements present with rigidity, resting tremors, postural instability and bradykinesia, as seen in parkinsonism, while hyperkinetic movements typically present with chorea, ballismus, tic, athetosis and dystonia. Nonetheless, movement disorders are thought to be a continuum. Long-term therapy of parkinsonism with L-DOPA or dopamine (DA) agonists leads to late-onset dyskinesia - a hyperkinetic movement disorder, while patients with late-stage Huntington disease (HD) often develop non-DOPA responsive parkinsonism...
August 21, 2019: Medical Hypotheses
https://read.qxmd.com/read/31315972/phosphodiesterase-10a-igg-a-novel-biomarker-of-paraneoplastic-neurologic-autoimmunity
#15
JOURNAL ARTICLE
Anastasia Zekeridou, Thomas Kryzer, Yong Guo, Anhar Hassan, Vanda Lennon, Claudia F Lucchinetti, Sean Pittock, Andrew McKeon
OBJECTIVE: To describe a novel antibody biomarker of neurologic paraneoplastic autoimmunity specific for phosphodiesterase 10A (PDE10A), a striatum-enriched phosphodiesterase, and to characterize the clinical phenotype of patients with PDE10A immunoglobulin G (IgG). METHODS: We describe 7 patients with autoantibodies specific for PDE10A identified in the Mayo Clinic Neuroimmunology Laboratory. Patient specimens (sera, 7; CSF, 4) produced identical basal ganglia-predominant synaptic staining of murine brain tissue by indirect immunofluorescence...
August 20, 2019: Neurology
https://read.qxmd.com/read/30001695/xanthine-calculi-in-a-patient-with-lesch-nyhan-syndrome-and-factor-v-leiden-treated-with-allopurinol-case-report
#16
JOURNAL ARTICLE
Lisa B E Shields, Dennis S Peppas, Eran Rosenberg
BACKGROUND: Lesch-Nyhan syndrome is a rare inborn error of purine metabolism marked by a complete deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). Inherited as an X-linked recessive genetic disorder that primarily affects males, patients with Lesch-Nyhan syndrome exhibit severe neurological impairments, including choreoathetosis, ballismus, cognitive dysfunction, and self-injurious behavior. Uric acid levels are usually abnormally high, leading to kidney and bladder stones which often necessitate urological intervention...
July 12, 2018: BMC Pediatrics
https://read.qxmd.com/read/29925556/bilateral-chorea-ballismus-detection-and-management-of-a-rare-complication-of-non-ketotic-hyperglycaemia
#17
JOURNAL ARTICLE
Venkata Sunil Bendi, Abhishek Matta, Diego Torres-Russotto, James Shou
Non-ketotic hyperglycaemia (NKH) is the most common metabolic cause of hemichorea-hemiballismus (HC-HB) and an often-reversible condition. A 68-year-old man presented to the emergency department with a severe hyperglycaemic episode and altered mental status. He was treated appropriately and discharged home after his blood glucose levels were normal with an improvement of mental status. Four weeks after the discharge, he returned with flailing movements of bilateral upper and lower limbs. MRI of the brain revealed hyperintensities of the bilateral putamen on T1-weighted imaging...
June 19, 2018: BMJ Case Reports
https://read.qxmd.com/read/29852244/gain-of-function-kcnj6-mutation-in-a-severe-hyperkinetic-movement-disorder-phenotype
#18
JOURNAL ARTICLE
Gabriella A Horvath, Yulin Zhao, Maja Tarailo-Graovac, Cyrus Boelman, Harinder Gill, Casper Shyr, James Lee, Ingrid Blydt-Hansen, Britt I Drögemöller, Jacqueline Moreland, Colin J Ross, Wyeth W Wasserman, Andrea Masotti, Paul A Slesinger, Clara D M van Karnebeek
Here, we describe a fourth case of a human with a de novo KCNJ6 (GIRK2) mutation, who presented with clinical findings of severe hyperkinetic movement disorder and developmental delay, similar to the Keppen-Lubinsky syndrome but without lipodystrophy. Whole-exome sequencing of the patient's DNA revealed a heterozygous de novo variant in the KCNJ6 (c.512T>G, p.Leu171Arg). We conducted in vitro functional studies to determine if this Leu-to-Arg mutation alters the function of GIRK2 channels. Heterologous expression of the mutant GIRK2 channel alone produced an aberrant basal inward current that lacked G protein activation, lost K+ selectivity and gained Ca2+ permeability...
August 1, 2018: Neuroscience
https://read.qxmd.com/read/29044699/diabetic-striatopathy-manifesting-as-severe-consciousness-disturbance-with-no-involuntary-movements
#19
JOURNAL ARTICLE
H Sato, M Hamano, E Fushimi, T Takahashi, Y Horikawa, S Horiguchi
BACKGROUND: Diabetic striatopathy, one of the complications of diabetes mellitus, is characterized by involuntary movements, including hemichorea and hemiballismus, and the presence of hyperintense lesions on T1-weighted magnetic resonance imaging of the striatum. CASE REPORT: We present a case of diabetic striatopathy manifesting as severe consciousness disturbance without chorea or ballismus. A 58-year-old man was admitted to our hospital in a state of unconsciousness...
December 2017: Diabetic Medicine: a Journal of the British Diabetic Association
https://read.qxmd.com/read/28782500/unapparent-hypoxanthine-guanine-phosphoribosyltransferase-deficiency
#20
JOURNAL ARTICLE
R J Torres, S Puente, A Menendez, N Fernandez-Garcia
Complete deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT) activity causes Lesch Nyhan disease (LND), characterized by hyperuricemia, severe action dystonia, choreoathetosis, ballismus, cognitive and attention deficit and self-injurious behavior. Partial HPRT deficiency is present in patients with Lesch-Nyhan variant (LNV), who present with HPRT-related gout and a variable degree of neurological involvement. The diagnosis of HPRT deficiency relies on clinical, biochemical, enzymatic and molecular data...
September 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
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