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Hallervorden Spatz Disease

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A Novel Mutation in Neurodegeneration with Brain Iron Accumulation - A Case Report.

Sundarachary Nagarjunakonda, Rajeswari Daggumati, Veeramma Uppala, Ramakrishna Gajula, Sridhar Amalakanti,

Neurodegeneration with brain iron accumulation (NBIA), previously called Hallervorden Spatz disease, is a group of disorders which share the hallmark of iron deposition in the brain. They are collectively characterized by extrapyramidal movement disorders, particularly those of parkinsonism, dystonia, cognitive regression, neuropsychiatric abnormalities, pyramidal features, optic atrophy, and retinal abnormalities. ... Read more >>

Neurol India (Neurology India)
[2019, 67(5):1341-1343]

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Continuous Positive Airway Pressure Therapy in a Patient with Pantothenate-Kinase-Associated Neurodegeneration.

Hyung Seok Guk, Dae Lim Koo, Hyunwoo Nam,

J Clin Neurol (Journal of clinical neurology (Seoul, Korea))
[2019, 15(4):583-584]

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Eye-of-the-tiger Sign in Neurodegeneration with Brain Iron Accumulation.

Madeline Goldberg, Khizar Malik, Rekha Jiswant, Aunali S Khaku,

A 68-year-old male patient presented to the neurology clinic with tremor, lightheadedness, and a history of syncope. Exam showed mild Parkinsonism. Neuroimaging revealed symmetric lesions of the globus pallidus (the eye-of-the-tiger sign) concerning for neurodegeneration with brain iron accumulation (NBIA). Genetic panel for NBIA was ordered, specifically pantothenate kinase-associated neurodegeneration ... Read more >>

Cureus (Cureus)
[2019, 11(6):e4936]

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[Anesthesia in patients with NBIA : Neurodegeneration with brain iron accumulation].

T Warnecke, J Schmitz, S Kerkhoff, J Hinkelbein,

BACKGROUND:Neurodegeneration with brain iron accumulation (NBIA) forms a group of rare hereditary diseases with rapid neurodegenerative progression due to an abnormal accumulation of iron in the basal ganglia. This causes extrapyramidal symptoms as well as dystonia and mental retardation. The most common form of NBIA is pantothenate kinase-associated neurodegeneration (PKAN, formerly ... Read more >>

Anaesthesist (Der Anaesthesist)
[2018, 67(11):871-877]

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Novel PANK2 mutation in a Chinese boy with PANK2-associated neurodegeneration: A case report and review of Chinese cases.

Yingying Zhang, Dong Zhou, Tianhua Yang,

RATIONALE:Pantothenate kinase-associated neurodegeneration (PKAN), also called Hallervorden-Spatz Syndrome (HSS), is a rare neurodegeneration with brain iron accumulation from pantothenate kinase 2 gene (PANK2) mutation characterized as extrapyramidal symptoms. However, few studies involving PKAN patients were reported in China. This study was conducted to identify the genetic mutations in a Chinese ... Read more >>

Medicine (Baltimore) (Medicine)
[2019, 98(4):e14122]

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Neurologic Wilson disease: case series on a diagnostic and therapeutic emergency.

Romeo V Porlas, Lennie Lynn C de Castillo, Carissa Paz C Dioquino,

Wilson disease is a rare genetic disease causing pathologic deposition of copper in the liver, brain, cornea, kidney, and cardiac muscles. Presented are two cases of neurologic Wilson disease with progressive movement disorder and Kayser-Fleischer rings with low serum copper, low ceruloplasmin, and increased 24-hour urine copper against a background ... Read more >>

Dialogues Clin Neurosci (Dialogues in clinical neuroscience)
[2018, 20(4):341-345]

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Anesthetic management of a case of neurodegeneration brain iron accumulation (Hallervorden-Spatz disease).

Rajender Kumar, Neeta Taneja, Ritika Gandhi,

J Anaesthesiol Clin Pharmacol (Journal of anaesthesiology, clinical pharmacology)
[2018, 34(2):278-279]

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Relative frequency of inherited retinal dystrophies in Brazil.

Fabiana Louise Motta, Renan Paulo Martin, Rafael Filippelli-Silva, Mariana Vallim Salles, Juliana Maria Ferraz Sallum,

Among the Brazilian population, the frequency rates of inherited retinal dystrophies and their causative genes are underreported. To increase the knowledge about these dystrophies in our population, we retrospectively studied the medical records of 1,246 Brazilian patients with hereditary retinopathies during 20 years of specialized outpatient clinic care. Of these ... Read more >>

Sci Rep (Scientific reports)
[2018, 8(1):15939]

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"Eye of the Tiger" in a Non-Responsive Neuropsychiatric Patient: A Case Report.

Milad Hosseinialhashemi, Babak Daneshfard, Atefe Hashemi,

Hallervorden-Spatz syndrome is a rare neurodegenerative disorder with hereditary properties. It usually occurs in young adolescents with extrapyramidal symptoms besides disturbed mental function. In this study, we present a 23-year-old neuropsychiatric patient who primarily misdiagnosed to have conversion disorder. She had 5-year history of progressive dysarthria and generalized abnormal movements. ... Read more >>

Acta Med Iran (Acta medica Iranica)
[2018, 56(1):71-73]

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[From the Hallervorden-Spatz eponym to the molecular terminology].

Ferenc Garzuly,

A combination of Niemann-Pick- and Hallervorden-Spatz diseases led to the death of a 17-year-old boy in 1994. Genetic counseling necessitated further investigations in 2017. Meanwhile, the nomenclature of Hallervorden-Spatz disease has been abandoned. The author analyze the reasons for this change.Professional activities of Hallervorden and Spatz during and after the ... Read more >>

Orv Hetil (Orvosi hetilap)
[2017, 158(43):1723-1727]

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Animals in the Brain.

Eoin Mulroy, Bettina Balint, Matthew E Adams, Tom Campion, Marcelo Merello, Kailash P Bhatia,

Background:Pareidolic associations are commonly used in medical education to enhance perception of radiological abnormalities. A number of animal-inspired neuroradiological pareidolias have been defined which should alert clinicians to specific movement disorder diagnoses. Methods:A review of the published literature detailing neuroradiological abnormalities in movement disorder syndromes was conducted, looking specifically for ... Read more >>

Mov Disord Clin Pract (Movement disorders clinical practice)
[2019, 6(3):189-198]

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Change of the Writing-Hand: Unusual Manifestation of Hallervorden-Spatz Disease.

Omer Ć Ibrahimagić, Dževdet Smajlović, Zikrija Dostović, Svjetlana Mujagić, Zejneba Pašić, Denisa Salihović,

Psychiatr Danub (Psychiatria Danubina)
[2017, 29(4):507-509]

Cited: 1 time

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Nazi Medicine-Part 2: The Downfall of a Profession and Pernkopf's Anatomy Atlas.

Erdem Bagatur,

Clin. Orthop. Relat. Res. (Clinical orthopaedics and related research)
[2018, 476(11):2123-2127]

Cited: 2 times

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Autosomal dominant mitochondrial membrane protein-associated neurodegeneration (MPAN).

Allison Gregory, Mitesh Lotia, Suh Young Jeong, Rachel Fox, Dolly Zhen, Lynn Sanford, Jeff Hamada, Amir Jahic, Christian Beetz, Alison Freed, Manju A Kurian, Thomas Cullup, Marlous C M van der Weijden, Vy Nguyen, Naly Setthavongsack, Daphne Garcia, Victoria Krajbich, Thao Pham, Randy Woltjer, Benjamin P George, Kelly Q Minks, Alexander R Paciorkowski, Penelope Hogarth, Joseph Jankovic, Susan J Hayflick,

BACKGROUND:Mitochondrial membrane protein-associated neurodegeneration (MPAN) is caused by pathogenic sequence variants in C19orf12. Autosomal recessive inheritance has been demonstrated. We present evidence of autosomal dominant MPAN and propose a mechanism to explain these cases. METHODS:Two large families with apparently dominant MPAN were investigated; additional singleton cases of MPAN were identified. Gene ... Read more >>

Mol Genet Genomic Med (Molecular genetics & genomic medicine)
[2019, 7(7):e00736]

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Evaluation of Iron Deficiency Anemia Frequency as a Risk Factor in Glaucoma.

Penpe Gul Firat, Ersan Ersin Demirel, Seyhan Dikci, Irfan Kuku, Oguzhan Genc,

Iron deficiency anemia is an important public health problem. Also it is considered to be a risk factor for many diseases. The study demonstrates the iron deficiency anemia frequency in glaucoma patients and compares with the normal subjects. We aimed to determine the iron deficiency anemia frequency in glaucoma patients.Prospective, ... Read more >>

Anemia (Anemia)
[2018, 2018:1456323]

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Pantothenate kinase-associated neurodegeneration.

Khalid Hundallah, Afnan Al Hakeem,

Neurosciences (Riyadh) (Neurosciences (Riyadh, Saudi Arabia))
[2017, 22(2):156-157]

Cited: 1 time

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Neurodegeneration with Brain Iron Accumulation.

Amit Batla, Chandana Gaddipati,

The term NBIA encompasses a heterogeneous group of inherited disorders characterized clinically by progressive extra pyramidal syndrome and pathologically by excessive iron deposition in brain, primarily affecting the basal ganglia (globus pallidus mainly). The hallmark of this syndrome is the age specific phenotypic presentation and intraphenotypic heterogeneity. NBIAs at present ... Read more >>

Ann Indian Acad Neurol (Annals of Indian Academy of Neurology)
[2019, 22(3):267-276]

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Signs in Neuroradiology: A Pictorial Review.

Özgür Kizilca, Alp Öztek, Uğur Kesimal, Utku Şenol,

One of the major problems radiologists face in everyday practice is to decide the correct diagnosis, or at least narrow down the list of possibilities. In this context, indicative evidences (signs) are useful to recognize pathologies, and also to narrow the list of differential diagnoses. Despite classically being described for ... Read more >>

Korean J Radiol (Korean journal of radiology)
[2017, 18(6):992-1004]

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Tremor-Dominant Pantothenate Kinase-associated Neurodegeneration.

Mohammad Rohani, Gholamali Shahidi, Afagh Alavi, Anthony E Lang, Niloufar Yousefi, Said Razme, Alfonso Fasano,

Neurodegeneration with brain iron accumulation (NBIA) includes a rare and heterogeneous group of disorders characterized by iron deposition in the basal ganglia. Pantothenate kinase-associated neurodegeneration (PKAN) is the most common NBIA and has 2 main presentations: typical and atypical, the latter rarely presents with tremor. Our reported patients underwent full ... Read more >>

Mov Disord Clin Pract (Movement disorders clinical practice)
[2017, 4(5):772-774]

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Hallervorden-Spatz Syndrome with Seizures.

Sunil Gothwal, Swati Nayan,

Hallervorden-Spatz syndrome is a disorder characterized by dystonia, parkinsonism, and iron accumulation in the brain. The disease is caused by mutations in gene encoding pantothenate kinase 2 (PANK2) and patients have pantothenate kinase-associated neurodegeneration. We present an 8-year-old boy with progressive muscle dystonia, neuroregression, frequent fall and multiple injury marks ... Read more >>

Basic Clin Neurosci (Basic and clinical neuroscience)
[2016, 7(2):165-166]

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A pilot trial of deferiprone in pantothenate kinase-associated neurodegeneration patients.

Mohammad Rohani, Saeed Razmeh, Gholam Ali Shahidi, Elham Alizadeh, Maryam Orooji,

Pantothenate kinase-associated neurodegeneration (PKAN) is the most common form of neurodegeneration with brain iron accumulation, it is an autosomal recessive disease due to mutation in PANK 2 on chromosome 20, which causes the accumulation of iron in basal ganglia and production of free radicals that cause degeneration of the cells. ... Read more >>

Neurol Int (Neurology international)
[2017, 9(4):7279]

Cited: 3 times

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Basal ganglia calcification and novel compound heterozygous mutations in the PANK2 gene in a Chinese boy with classic Pantothenate kinase-associated neurodegeneration: A case report.

Xulai Shi, Feixia Zheng, Xiuyun Ye, Xiucui Li, Qianlei Zhao, Zhongdong Lin, Ying Hu, Jiwen Wang,

Pantothenate kinase-associated neurodegeneration (PKAN) represents an autosomal recessive hereditary disease. In this report, a PANK2 gene mutation in a Chinese child was identified, as well as detections of PKAN among his family members. Our findings exposed a world-wide novel compound heterozygous mutation.We described a 6-year-old male patient with PKAN, exhibiting ... Read more >>

Medicine (Baltimore) (Medicine)
[2018, 97(15):e0316]

Cited: 1 time

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What the "man in the moon" can tell us about the future of our brains.

Birgit Högl,

Ann Transl Med (Annals of translational medicine)
[2017, 5(17):358]

Cited: 2 times

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Manganese-Induced Neurotoxicity: New Insights Into the Triad of Protein Misfolding, Mitochondrial Impairment, and Neuroinflammation.

Dilshan S Harischandra, Shivani Ghaisas, Gary Zenitsky, Huajun Jin, Arthi Kanthasamy, Vellareddy Anantharam, Anumantha G Kanthasamy,

Occupational or environmental exposure to manganese (Mn) can lead to the development of "Manganism," a neurological condition showing certain motor symptoms similar to Parkinson's disease (PD). Like PD, Mn toxicity is seen in the central nervous system mainly affecting nigrostriatal neuronal circuitry and subsequent behavioral and motor impairments. Since the ... Read more >>

Front Neurosci (Frontiers in Neuroscience)
[2019, 13:654]

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New Perspectives in Iron Chelation Therapy for the Treatment of Neurodegenerative Diseases.

Marco T Nuñez, Pedro Chana-Cuevas,

Iron chelation has been introduced as a new therapeutic concept for the treatment of neurodegenerative diseases with features of iron overload. At difference with iron chelators used in systemic diseases, effective chelators for the treatment of neurodegenerative diseases must cross the blood⁻brain barrier. Given the promissory but still inconclusive results ... Read more >>

Pharmaceuticals (Basel) (Pharmaceuticals (Basel, Switzerland))
[2018, 11(4):]

Cited: 8 times

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