Database : MEDLINE
Search on : neuroacanthocytosis [Words]
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[PMID]: 29503346
[Au] Autor:Ghosal A; Pal S
[Ad] Address:Department of Neurology, Institute of Neurosciences, Howrah, Kolkata, West Bengal, India.
[Ti] Title:Weight loss due to feeding dyskinesia: A presenting symptom of neuroacanthocytosis.
[So] Source:Neurol India;66(Supplement):S157-S160, 2018 Mar-Apr.
[Is] ISSN:0028-3886
[Cp] Country of publication:India
[La] Language:eng
[Pt] Publication type:LETTER
[Em] Entry month:1803
[Cu] Class update date: 180305
[Lr] Last revision date:180305
[St] Status:In-Data-Review
[do] DOI:10.4103/0028-3886.226444

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[PMID]: 29317187
[Au] Autor:Estévez-Fraga C; López-Sendón Moreno JL; Martínez-Castrillo JC; Spanish Collaborative Neuroacanthocytosis Group
[Ad] Address:Neurology Department, Hospital Ramón y Cajal, Madrid, Spain; Instituto Ramón y Cajal de Investigación IRICYS, Spain.
[Ti] Title:Phenomenology and disease progression of chorea-acanthocytosis patients in Spain.
[So] Source:Parkinsonism Relat Disord;, 2017 Dec 20.
[Is] ISSN:1873-5126
[Cp] Country of publication:England
[La] Language:eng
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180205
[Lr] Last revision date:180205
[St] Status:Publisher

  3 / 264 MEDLINE  
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[PMID]: 29253590
[Au] Autor:Peikert K; Danek A; Hermann A
[Ad] Address:Division for Neurodegenerative Diseases, Department of Neurology, Technische Universität Dresden, 01307 Dresden, Germany.
[Ti] Title:Current state of knowledge in Chorea-Acanthocytosis as core Neuroacanthocytosis syndrome.
[So] Source:Eur J Med Genet;, 2017 Dec 16.
[Is] ISSN:1878-0849
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:Neuroacanthocytosis (NA) syndromes are a group of rare diseases characterized by neurological disorders and misshaped spiky red blood cells (acanthocytes) including Chorea-Acanthocytosis (ChAc), McLeod syndrome (MLS), Huntington disease-like 2 (HDL 2), pantothenate kinase-associated neurodegeneration (PKAN), abeta- and hypobetalipoproteinemia and aceruloplasminemia. This clinically and genetically heterogeneous group of diseases shares main clinical features presenting most often as a hyperkinetic movement disorder. Even though these are long noted disease conditions, we still know only little on the underlying disease mechanisms. The current review focuses upon ChAc as the core entity of NA syndromes caused by mutations in the VPS13A gene. The support of patient organizations and the ERA-NET initiative yielded to different multidisciplinary efforts with significant progress on our understanding of ChAc. Disturbances in two pathways are currently considered to be significantly involved in the pathophysiology of ChAc, namely elevated Lyn kinase phosphorylation and decreased signaling via Phosphoinositide 3-kinase (PI3K). These recent developments may reveal potential drugable targets for causative therapies of ChAc.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1712
[Cu] Class update date: 171226
[Lr] Last revision date:171226
[St] Status:Publisher

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[PMID]: 29226019
[Au] Autor:Anderson DG; Carmona S; Naidoo K; Coetzer TL; Carr J; Rudnicki DD; Walker RH; Margolis RL; Krause A
[Ad] Address:Department of Neurology, The University of the Witwatersrand Donald Gordon Medical Center, Johannesburg, South Africa.
[Ti] Title:Absence of Acanthocytosis in Huntington's Disease-like 2: A Prospective Comparison with Huntington's Disease.
[So] Source:Tremor Other Hyperkinet Mov (N Y);7:512, 2017.
[Is] ISSN:2160-8288
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Background: Huntington's Disease-like 2 (HDL2) is classified as a neuroacanthocytosis; however, this remains unverified. We aim to determine if acanthocytes are present in HDL2 and whether acanthocytes can differentiate HDL2 from Huntington's disease (HD). Methods: We prospectively compared 13 HD and 12 HDL2 cases against 21 unaffected controls in Johannesburg. Blood smears were prepared using international standards and reviewed by at least two blinded reviewers. An acanthocytosis rate of greater than 1.2% in the dry smear or greater than 3.7% in the wet smear was designated a priori as the threshold for clinical significance based on previously established standards. Flow cytometry was performed on all but four of the cases. Red cell membrane protein analysis was performed on all participants. Results: There were 12 HDL2, 13 HD, and 21 controls enrolled. None of the HD or HDL2 participants had defined acanthocytosis or other morphological abnormalities. None of the HD or HDL2 cases had evidence of an abnormal band 3. Discussion: Acanthocytosis was not identified in either HDL2 or HD in our patient population. Our results, based on the first prospective study of acanthocytes in HDL2 or HD, suggest that screening for acanthocytes will not help establish the diagnosis of HD or HDL2, nor differentiate between the two disorders and raises the question if HDL2 should be placed within the neuroacanthocytosis syndromes.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 171220
[Lr] Last revision date:171220
[St] Status:In-Process
[do] DOI:10.7916/D81J9PDX

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[PMID]: 29037056
[Au] Autor:Hadzsiev K; Szots M; Fekete A; Balikó L; Boycott K; Nagy F; Melegh B
[Ad] Address:Klinikai Központ, Orvosi Genetikai Intézet, Pécsi Tudományegyetem, Általános Orvostudományi Kar Pécs, József A. u. 7., 7623.
[Ti] Title:Neuroacanthocytosis diagnózisa új generációs exom-szekvenálással. [Neuroacanthocytosis diagnosis with new generation whole exome sequencing].
[So] Source:Orv Hetil;158(42):1681-1684, 2017 Oct.
[Is] ISSN:0030-6002
[Cp] Country of publication:Hungary
[La] Language:hun
[Ab] Abstract:In a patient with marked symptoms of Huntington disease after the huntingtin testing, which gave normal result, a whole exome sequencing (WES) has been performed based on an international collaboration. A homozygous G>A nucleotid change in the exon 34 of the VPS13A gene has been detected with WES, a mutation resulting in a premature stop codon at the position 1301. This change is a known pathogenic mutation. The aim of this article is to draw attention on the importance of the WES in the diagnosis of rare neurological diseases without any specific symptoms. Orv Hetil. 2017; 158(42): 1681-1684.
[Pt] Publication type:ENGLISH ABSTRACT; JOURNAL ARTICLE
[Em] Entry month:1710
[Cu] Class update date: 171107
[Lr] Last revision date:171107
[St] Status:In-Process
[do] DOI:10.1556/650.2017.30880

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[PMID]: 28914676
[Au] Autor:Syeda S; Bharadwaj S
[Ad] Address:Department of Neuro anaesthesia and Neuro critical care, National Institute of Mental Health and Neurosciences, Bangalore, Karnataka, India-560029.
[Ti] Title:Is Dexmedetomidine a Miracle Drug for Sedation in Patients With Neuroacanthocytosis With Involuntary Movements?
[So] Source:J Neurosurg Anesthesiol;, 2017 Sep 13.
[Is] ISSN:1537-1921
[Cp] Country of publication:United States
[La] Language:eng
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1709
[Cu] Class update date: 170915
[Lr] Last revision date:170915
[St] Status:Publisher
[do] DOI:10.1097/ANA.0000000000000458

  7 / 264 MEDLINE  
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[PMID]: 28561176
[Au] Autor:Schneider C; Danek A; Hostmann A; Fink GR; Burghaus L
[Ad] Address:Klinik und Poliklinik für Neurologie, Uniklinik Köln.
[Ti] Title:Frühdiagnose der Chorea-Akanthozytose: orofaziale Dyskinesien, epileptische Anfälle und HyperCKämie. [Early Diagnosis of Chorea-Acanthocytosis: Orofacial Dyskinesia, Epileptic Seizures, and HyperCKemia].
[So] Source:Fortschr Neurol Psychiatr;85(5):270-273, 2017 May.
[Is] ISSN:1439-3522
[Cp] Country of publication:Germany
[La] Language:ger
[Ab] Abstract:Chorea-acanthocytosis is an uncommon neurodegenerative disorder. Early diagnosis is often challenging. The triad of orofacial dyskinesia, epileptic seizures, and hyperCKemia should alert neurologists of a neuroacanthocytosis syndrome. The diagnosis can be confirmed by detection of chorein deficiency or through molecular genetics (VPS13A mutation).
[Pt] Publication type:ENGLISH ABSTRACT; JOURNAL ARTICLE
[Em] Entry month:1706
[Cu] Class update date: 170531
[Lr] Last revision date:170531
[St] Status:In-Process
[do] DOI:10.1055/s-0042-123042

  8 / 264 MEDLINE  
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[PMID]: 28555782
[Au] Autor:Gassner C; Brönnimann C; Merki Y; Mattle-Greminger MP; Sigurdardottir S; Meyer E; Engström C; O'Sullivan JD; Jung HH; Frey BM
[Ad] Address:Department of Molecular Diagnostics & Research (MOC), Swiss Red Cross (SRC), Zürich-Schlieren, Switzerland.
[Ti] Title:Stepwise partitioning of Xp21: a profiling method for XK deletions causative of the McLeod syndrome.
[So] Source:Transfusion;57(9):2125-2135, 2017 Sep.
[Is] ISSN:1537-2995
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:BACKGROUND: McLeod syndrome (MLS) is hematologically defined by the absence of the red blood cell (RBC) antigen Kx on the transmembrane RBC protein, XK, representing a highly specific diagnostic marker. Direct molecular assessment of XK therefore represents a desirable diagnostic tool. Whereas pathogenic point mutations may be simply identified, partial and complete deletions of XK on Xp21.1, eventually covering adjacent genes and causing multifaceted "continuous gene syndromes," are difficult to localize. STUDY DESIGN AND METHODS: Three different McLeod patient samples were tested using 16 initial positional polymerase chain reaction (PCR) procedures distributed over an approximately 2.8-Mbp Xp-chromosomal region, ranging telomeric from MAGEB16 to OTC, centromeric of XK. The molecular breakpoint of one sample with an apparent large Xp deletion was iteratively narrowed down by stepwise positioning further PCR procedures and sequenced. Two mutant XK genes, one previously published and serving as a positive control, were also sequenced. RESULTS: We confirmed the positive control as previously published and listed as XK*N.20 by the International Society of Blood Transfusion (ISBT). The other XK showed a novel four-nucleotide deletion in Exon 1, 195-198delCCGC (newly listed as XK*N.39 by the ISBT). The third sample had an approximately 151-kbp X-chromosomal deletion, reaching from Exon 2 of LANCL3, across XK to Exon 3 of CYBB (newly listed as XK*N.01.016 by the ISBT). Carrier status of the patients' sister was diagnosed using a diagnostic "gap-PCR." CONCLUSIONS: The stepwise partitioning of Xp21.1 is pragmatic and cost-efficient in comparison to other diagnostic techniques such as "massive parallel sequencing" given the rarity of MLS. All males with suspected MLS should be considered for molecular XK profiling.
[Mh] MeSH terms primary: Amino Acid Transport Systems, Neutral/genetics
Chromosomes, Human, X/genetics
Neuroacanthocytosis/genetics
[Mh] MeSH terms secundary: Gene Deletion
Humans
Male
Polymerase Chain Reaction
Sequence Deletion
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (Amino Acid Transport Systems, Neutral); 0 (XK protein, human)
[Em] Entry month:1710
[Cu] Class update date: 171027
[Lr] Last revision date:171027
[Js] Journal subset:IM
[Da] Date of entry for processing:170531
[St] Status:MEDLINE
[do] DOI:10.1111/trf.14172

  9 / 264 MEDLINE  
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[PMID]: 28551324
[Au] Autor:Peluso S; Bilo L; Esposito M; Antenora A; De Rosa A; Pappatà S; De Michele G
[Ad] Address:Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy. Electronic address: silviopeluso@alice.it.
[Ti] Title:Chorea-acanthocytosis without chorea: Expanding the clinical phenotype.
[So] Source:Parkinsonism Relat Disord;41:124-126, 2017 Aug.
[Is] ISSN:1873-5126
[Cp] Country of publication:England
[La] Language:eng
[Pt] Publication type:LETTER
[Em] Entry month:1705
[Cu] Class update date: 170801
[Lr] Last revision date:170801
[St] Status:In-Data-Review

  10 / 264 MEDLINE  
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[PMID]: 28527175
[Au] Autor:Sahoo LK; Swain KP; Mallick AK; Mohanty G; Samanta M; Sahoo SK
[Ad] Address:Senior Resident.
[Ti] Title:Chorea and Orofaciolingual Dystonia in a 40 Year Old Male.
[So] Source:J Assoc Physicians India;65(4):93-94, 2017 Apr.
[Is] ISSN:0004-5772
[Cp] Country of publication:India
[La] Language:eng
[Ab] Abstract:Neuroacanthocytosis is a heterogeneous group of disorders which result in progressive neurodegeneration, predominantly of the basal ganglia, and erythrocyte acanthocytosis. We report a case of neuroacanthocytosis with typical phenotype of choreoacanthocytosis. A 40 year male presented with features of chorea with orofaciolingual dystonia producing eating and speech difficulties. There were features of self mutilation in form of lip and tongue biting. Peripheral blood smear examination revealed acanthocytes in our patient. Neuroimaging showed bilateral caudate atrophy and nerve conduction study showed motor axonal neuropathy. This case report describes the typical features and investigations to diagnose this rare disorder which is usually underdiagnosed.
[Pt] Publication type:CASE REPORTS
[Em] Entry month:1705
[Cu] Class update date: 170520
[Lr] Last revision date:170520
[St] Status:In-Data-Review


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