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Rare neurological diseases

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  1. GNE myopathy is an ultra-rare autosomal recessive disease, which starts as a distal muscle weakness and ultimately leads to a wheelchair bound state. Molecular research and animal modelling significantly moved...

    Authors: Oksana Pogoryelova, José Andrés González Coraspe, Nikoletta Nikolenko, Hanns Lochmüller and Andreas Roos

    Citation: Orphanet Journal of Rare Diseases 2018 13:70

    Content type: Review

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  2. Autoantibodies against the smaller isoform of glutamate decarboxylase (GAD65Ab) reflect autoimmune etiologies in Type 1 diabetes (T1D) and several neurological disorders, including Stiff Person Syndrome (SPS)....

    Authors: Suvi Liimatainen, Jerome Honnorat, Sean J. Pittock, Andrew McKeon, Mario Manto, Jared R. Radtke and Christiane S. Hampe

    Citation: Orphanet Journal of Rare Diseases 2018 13:55

    Content type: Research

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  3. The reversal of the Rett syndrome disease process in the Mecp2 mouse model of Guy et al. (2007) has motivated families and researchers to work on this condition. The reversibility in adult mice suggests that t...

    Authors: Angus John Clarke and Ana Paula Abdala Sheikh

    Citation: Orphanet Journal of Rare Diseases 2018 13:44

    Content type: Position statement

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  4. Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant disorder mainly due to a deletion of chromosome 17p11.2 including PMP22 (PMP22 Del HNPP). The prevalence of HNPP is estimat...

    Authors: Jong Eun Park, Seung-Jae Noh, Mijin Oh, Dae-Yeon Cho, So Young Kim and Chang-Seok Ki

    Citation: Orphanet Journal of Rare Diseases 2018 13:40

    Content type: Letter to the Editor

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  5. Tuberous sclerosis complex (TSC) is a genetic disorder with an incidence of 1:6000 live births and associated with the development of benign tumors in several organs. It is also characterized by high rates of ...

    Authors: Monika Słowińska, Sergiusz Jóźwiak, Angela Peron, Julita Borkowska, Dariusz Chmielewski, Krzysztof Sadowski, Elżbieta Jurkiewicz, Aglaia Vignoli, Francesca La Briola, Maria Paola Canevini and Katarzyna Kotulska-Jóźwiak

    Citation: Orphanet Journal of Rare Diseases 2018 13:25

    Content type: Research

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  6. Spinocerebellar ataxia type 2 (SCA2) affects several neurological structures, giving rise to multiple symptoms. However, only the natural history of ataxia is well known, as measured during the study duration....

    Authors: Thais Lampert Monte, Estela da Rosa Reckziegel, Marina Coutinho Augustin, Lucas D. Locks-Coelho, Amanda Senna P. Santos, Gabriel Vasata Furtado, Eduardo Preusser de Mattos, José Luiz Pedroso, Orlando Póvoas Barsottini, Fernando Regla Vargas, Maria-Luiza Saraiva-Pereira, Suzi Alves Camey, Vanessa Bielefeldt Leotti and Laura Bannach Jardim

    Citation: Orphanet Journal of Rare Diseases 2018 13:20

    Content type: Research

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  7. Hereditary ATTR (ATTRm) amyloidosis (also called transthyretin-type familial amyloid polyneuropathy [ATTR-FAP]) is an autosomal-dominant, adult-onset, rare systemic disorder predominantly characterized by irre...

    Authors: Yoshiki Sekijima, Mitsuharu Ueda, Haruki Koike, Sonoko Misawa, Tomonori Ishii and Yukio Ando

    Citation: Orphanet Journal of Rare Diseases 2018 13:6

    Content type: Review

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    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2019 14:111

  8. Mitochondrial dysfunction may represent a pathogenic factor in Huntington disease (HD). Physical exercise leads to enhanced mitochondrial function in healthy participants. However, data on effects of physical ...

    Authors: Sandro Manuel Mueller, Saskia Maria Gehrig, Jens A. Petersen, Sebastian Frese, Violeta Mihaylova, Maria Ligon-Auer, Natalia Khmara, Jean-Marc Nuoffer, André Schaller, Carsten Lundby, Marco Toigo and Hans H. Jung

    Citation: Orphanet Journal of Rare Diseases 2017 12:184

    Content type: Research

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  9. Congenital myasthenic syndrome caused by mutations in AGRN, a gene encoding a protein with a crucial function at the neuromuscular junction, is a rare disorder. There are few studies in this area. We here present...

    Authors: Jianying Xi, Chong Yan, Wei-Wei Liu, Kai Qiao, Jie Lin, Xia Tian, Hui Wu, Jiahong Lu, Lee-Jun Wong, David Beeson and Chongbo Zhao

    Citation: Orphanet Journal of Rare Diseases 2017 12:182

    Content type: Letter to the Editor

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  10. Cornelia de Lange Syndrome (CdLS) is a choesinopathy: a severe genetic disorder caused by mutations in the cohesin complex genes. The phenotype is characterized by typical facial dysmorphism, growth impairment...

    Authors: Laura Avagliano, Paolo Grazioli, Milena Mariani, Gaetano P. Bulfamante, Angelo Selicorni and Valentina Massa

    Citation: Orphanet Journal of Rare Diseases 2017 12:174

    Content type: Review

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  11. Based on the hypothesis of a brain energy deficit, we investigated the safety and efficacy of triheptanoin on paroxysmal episodes in patients with alternating hemiplegia of childhood due to ATP1A3 mutations.

    Authors: Elodie Hainque, Samantha Caillet, Sandrine Leroy, Constance Flamand-Roze, Isaac Adanyeguh, Fanny Charbonnier-Beaupel, Maryvonne Retail, Benjamin Le Toullec, Mariana Atencio, Sophie Rivaud-Péchoux, Vanessa Brochard, Florence Habarou, Chris Ottolenghi, Florence Cormier, Aurélie Méneret, Marta Ruiz…

    Citation: Orphanet Journal of Rare Diseases 2017 12:160

    Content type: Research

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  12. Pelvic symptoms are distressing symptoms experienced by patients with Friedreich’s Ataxia (FRDA). The aim of this study was to describe the prevalence of lower urinary tract symptoms (LUTS), bowel and sexual s...

    Authors: Meher Lad, Michael H. Parkinson, Myriam Rai, Massimo Pandolfo, Petya Bogdanova-Mihaylova, Richard A. Walsh, Sinéad Murphy, Anton Emmanuel, Jalesh Panicker and Paola Giunti

    Citation: Orphanet Journal of Rare Diseases 2017 12:158

    Content type: Research

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  13. Limb girdle muscular dystrophies are a group of rare and genetically heterogeneous diseases that share proximal weakness as a common feature; however they are often lacking very specific phenotypic features to...

    Authors: Elizabeth Harris, Ana Topf, Rita Barresi, Judith Hudson, Helen Powell, James Tellez, Debbie Hicks, Anna Porter, Marta Bertoli, Teresinha Evangelista, Chiara Marini-Betollo, Ólafur Magnússon, Monkol Lek, Daniel MacArthur, Kate Bushby, Hanns Lochmüller…

    Citation: Orphanet Journal of Rare Diseases 2017 12:151

    Content type: Research

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  14. Neurofibromatosis type 1 (NF1) is an autosomal-dominant disease characterised by symptoms of the skin, eyes, nervous system and bones. A previous study indicated that constipation, large rectal diameters and p...

    Authors: Cecilie Ejerskov, Klaus Krogh, John R. Ostergaard, Janne L. Fassov and Annette Haagerup

    Citation: Orphanet Journal of Rare Diseases 2017 12:139

    Content type: Research

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  15. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare, autosomal-recessive mitochondrial disorder caused by TYMP mutations presenting with a multisystemic, often lethal syndrome of progressive l...

    Authors: Benjamin Röeben, Justus Marquetand, Benjamin Bender, Heiko Billing, Tobias B. Haack, Iciar Sanchez-Albisua, Ludger Schöls, Henk J. Blom and Matthis Synofzik

    Citation: Orphanet Journal of Rare Diseases 2017 12:135

    Content type: Letter to the Editor

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  16. Angelman syndrome (AS) is a rare neurodevelopmental disorder that is characterised by severe global developmental delays, ataxia, loss of speech, epilepsy, sleep disorders, and a happy disposition. There is cu...

    Authors: Kathryn R. Napier, Megan Tones, Chloe Simons, Helen Heussler, Adam A. Hunter, Meagan Cross and Matthew I. Bellgard

    Citation: Orphanet Journal of Rare Diseases 2017 12:134

    Content type: Letter to the Editor

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  17. Ataxia Telangiectasia (AT) is a rare incurable genetic disease, caused by biallelic mutations in the Ataxia Telangiectasia-Mutated (ATM) gene. Treatment with glucocorticoid analogues has been shown to improve the...

    Authors: Michele Menotta, Sara Biagiotti, Chiara Spapperi, Sara Orazi, Luigia Rossi, Luciana Chessa, Vincenzo Leuzzi, Daniela D’Agnano, Annarosa Soresina, Roberto Micheli and Mauro Magnani

    Citation: Orphanet Journal of Rare Diseases 2017 12:126

    Content type: Research

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  18. Spinocerebellar ataxia type 29 (SCA29) is an autosomal dominant, non-progressive cerebellar ataxia characterized by infantile-onset hypotonia, gross motor delay and cognitive impairment. Affected individuals e...

    Authors: Jessica L. Zambonin, Allison Bellomo, Hilla Ben-Pazi, David B. Everman, Lee M. Frazer, Michael T. Geraghty, Amy D. Harper, Julie R. Jones, Benjamin Kamien, Kristin Kernohan, Mary Kay Koenig, Matthew Lines, Elizabeth Emma Palmer, Randal Richardson, Reeval Segel, Mark Tarnopolsky…

    Citation: Orphanet Journal of Rare Diseases 2017 12:121

    Content type: Research

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  19. Neuronal Ceroid Lipofuscinosis (NCL), also known as Batten disease, is a group of genetically distinct lysosomal disorders that mainly affect the central nervous system, resulting in progressive motor and cogn...

    Authors: Kyeongsoon Kim, Hynda K. Kleinman, Hahn-Jun Lee and Kalipada Pahan

    Citation: Orphanet Journal of Rare Diseases 2017 12:113

    Content type: Review

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  20. Inexpensive medicines with a long history of use may currently be prescribed off-label for rare indications. Reimbursement is at the discretion of health insurance companies, and may be unpredictable. The example...

    Authors: Stephanie S. Weinreich, Charlotte Vrinten, Marja R. Kuijpers, Alexander F. Lipka, Kirsten J. M. Schimmel, Erik W. van Zwet, Christine Gispen-de Wied, Yechiel A. Hekster, Jan J. G. M. Verschuuren and Martina C. Cornel

    Citation: Orphanet Journal of Rare Diseases 2017 12:88

    Content type: Research

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  21. Xeroderma pigmentosum-Cockayne syndrome complex is a very rare multisystem degenerative disorder (Orpha: 220295; OMIM: 278730, 278760, 278780, 610651). Published information on XP-CS is mostly scattered throug...

    Authors: Valerie Natale and Hayley Raquer

    Citation: Orphanet Journal of Rare Diseases 2017 12:65

    Content type: Review

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  22. Respiratory muscle strength is a proven predictor of long-term outcome of neuromuscular disease (NMD), including amyotrophic lateral sclerosis, Duchenne muscular dystrophy, and spinal muscular atrophy. Maximal...

    Authors: Benedikt Schoser, Edward Fong, Tarekegn Geberhiwot, Derralynn Hughes, John T. Kissel, Shyam C. Madathil, David Orlikowski, Michael I. Polkey, Mark Roberts, Harm A. W. M. Tiddens and Peter Young

    Citation: Orphanet Journal of Rare Diseases 2017 12:52

    Content type: Review

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  23. North Sea Progressive Myoclonus Epilepsy is a rare and severe disorder caused by mutations in the GOSR2 gene. It is clinically characterized by progressive myoclonus, seizures, early-onset ataxia and areflexia. A...

    Authors: Martje E. van Egmond, Amerins Weijenberg, Margreet E. van Rijn, Jan Willem J. Elting, Jeannette M. Gelauff, Rodi Zutt, Deborah A. Sival, Roald A. Lambrechts, Marina A. J. Tijssen, Oebele F. Brouwer and Tom J. de Koning

    Citation: Orphanet Journal of Rare Diseases 2017 12:45

    Content type: Research

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  24. Non-optic gliomas occur in 5% of children with NF1, but little is known about these tumours in adults. We aimed to investigate progression, spontaneous regression and the natural history of non-optic gliomas i...

    Authors: Laura Sellmer, Said Farschtschi, Marco Marangoni, Manraj K. S. Heran, Patricia Birch, Ralph Wenzel, Jan M. Friedman and Victor-Felix Mautner

    Citation: Orphanet Journal of Rare Diseases 2017 12:34

    Content type: Research

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  25. CHIP, the protein encoded by STUB1, is a central component of cellular protein homeostasis and interacts with several key proteins involved in the pathogenesis of manifold neurodegenerative diseases. This gives r...

    Authors: Stefanie Nicole Hayer, Tine Deconinck, Benjamin Bender, Katrien Smets, Stephan Züchner, Selina Reich, Ludger Schöls, Rebecca Schüle, Peter De Jonghe, Jonathan Baets and Matthis Synofzik

    Citation: Orphanet Journal of Rare Diseases 2017 12:31

    Content type: Research

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  26. Niemann-Pick type C (NPC) disease is a lysosomal storage disorder characterized by a wide clinical spectrum and non-specific conventional magnetic resonance imaging (MRI) signs. As substrate reduction therapy ...

    Authors: Marion Masingue, Isaac Adanyeguh, Yann Nadjar, Frédéric Sedel, Damien Galanaud and Fanny Mochel

    Citation: Orphanet Journal of Rare Diseases 2017 12:22

    Content type: Research

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  27. Although research in this area remains sparse, raising a child with some genetic disorders has been shown to adversely impact maternal health and family quality of life. The aim of this study was to investigat...

    Authors: Yuka Mori, Jenny Downs, Kingsley Wong, Barbara Anderson, Amy Epstein and Helen Leonard

    Citation: Orphanet Journal of Rare Diseases 2017 12:16

    Content type: Research

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  28. Aromatic L-amino acid decarboxylase deficiency (AADCD) is a rare, autosomal recessive neurometabolic disorder that leads to a severe combined deficiency of serotonin, dopamine, norepinephrine and epinephrine. ...

    Authors: Tessa Wassenberg, Marta Molero-Luis, Kathrin Jeltsch, Georg F. Hoffmann, Birgit Assmann, Nenad Blau, Angeles Garcia-Cazorla, Rafael Artuch, Roser Pons, Toni S. Pearson, Vincenco Leuzzi, Mario Mastrangelo, Phillip L. Pearl, Wang Tso Lee, Manju A. Kurian, Simon Heales…

    Citation: Orphanet Journal of Rare Diseases 2017 12:12

    Content type: Review

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  29. Canavan disease is a devastating autosomal recessive leukodystrophy leading to spongiform degeneration of the white matter. There is no cure or treatment for Canavan disease, and disease progression is poorly ...

    Authors: Steven T. Merrill, Gary R. Nelson, Nicola Longo and Joshua L. Bonkowsky

    Citation: Orphanet Journal of Rare Diseases 2016 11:169

    Content type: Research

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  30. Ataxia telangiectasia (A-T) is an autosomal recessive disorder primarily characterized by cerebellar degeneration, telangiectasia, immunodeficiency, cancer susceptibility and radiation sensitivity. A-T is ofte...

    Authors: Cynthia Rothblum-Oviatt, Jennifer Wright, Maureen A. Lefton-Greif, Sharon A. McGrath-Morrow, Thomas O. Crawford and Howard M. Lederman

    Citation: Orphanet Journal of Rare Diseases 2016 11:159

    Content type: Review

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  31. Rett syndrome (RTT) is a rare disease but still one of the most abundant causes for intellectual disability in females. Typical symptoms are onset at month 6–18 after normal pre- and postnatal development, los...

    Authors: Friederike Ehrhart, Susan L. M. Coort, Elisa Cirillo, Eric Smeets, Chris T. Evelo and Leopold M. G. Curfs

    Citation: Orphanet Journal of Rare Diseases 2016 11:158

    Content type: Review

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  32. Sporadic inclusion body myositis (sIBM) is the most prevalent acquired muscle disease in the elderly. sIBM is an intractable and progressive disease of unknown cause and without effective treatment. The etiolo...

    Authors: Naoki Suzuki, Madoka Mori-Yoshimura, Satoshi Yamashita, Satoshi Nakano, Ken-ya Murata, Yukie Inamori, Naoko Matsui, En Kimura, Hirofumi Kusaka, Tomoyoshi Kondo, Itsuro Higuchi, Ryuji Kaji, Maki Tateyama, Rumiko Izumi, Hiroya Ono, Masaaki Kato…

    Citation: Orphanet Journal of Rare Diseases 2016 11:146

    Content type: Research

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  33. Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that involves the death of neurons. ALS is associated with many gene mutations as previously studied. In order to explore the molecular mechan...

    Authors: Meena Kumari Kotni, Mingzhu Zhao and Dong-Qing Wei

    Citation: Orphanet Journal of Rare Diseases 2016 11:148

    Content type: Research

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  34. Rett Syndrome is a neurodevelopmental disorder almost exclusively affecting females, characterized by a broad clinical spectrum of signs and symptoms and a peculiar course. The disease affects different body s...

    Authors: G. Pini, S. Bigoni, L. Congiu, A. M. Romanelli, M. F. Scusa, P. Di Marco, A. Benincasa, P. Morescalchi, A. Ferlini, F. Bianchi, D. Tropea and M. Zappella

    Citation: Orphanet Journal of Rare Diseases 2016 11:132

    Content type: Research

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  35. Inherited peripheral neuropathies (IPN) are the most common inherited neurological condition. It represents a highly heterogeneous group, both clinically and genetically.

    Authors: Petra Laššuthová, Dana Šafka Brožková, Marcela Krůtová, Jana Neupauerová, Jana Haberlová, Radim Mazanec, Pavel Dřímal and Pavel Seeman

    Citation: Orphanet Journal of Rare Diseases 2016 11:118

    Content type: Research

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  36. Erdheim-Chester disease (ECD) is a rare non-Langerhans histiocytosis characterized by systemic inflammation and granulomatous infiltration of multiple organs including the central nervous system (CNS), bones, ...

    Authors: Eli L. Diamond, Vaios Hatzoglou, Sneha Patel, Omar Abdel-Wahab, Raajit Rampal, David M. Hyman, Andrei I. Holodny and Ashish Raj

    Citation: Orphanet Journal of Rare Diseases 2016 11:109

    Content type: Letter to the Editor

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  37. Huntington’s disease (HD) is a devastating brain disorder with no effective treatment or cure available. The scarcity of brain tissue makes it hard to study changes in the brain and impossible to perform longi...

    Authors: Eleni Mina, Willeke van Roon-Mom, Kristina Hettne, Erik van Zwet, Jelle Goeman, Christian Neri, Peter A.C. ’t Hoen, Barend Mons and Marco Roos

    Citation: Orphanet Journal of Rare Diseases 2016 11:97

    Content type: Research

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  38. The nosological assignment of congenital ocular motor apraxia type Cogan (COMA) is still controversial. While regarded as a distinct entity by some authorities including the Online Mendelian Inheritance in Man...

    Authors: Sarah Wente, Simone Schröder, Johannes Buckard, Hans-Martin Büttel, Florian von Deimling, Wilfried Diener, Martin Häussler, Susanne Hübschle, Silvia Kinder, Gerhard Kurlemann, Christoph Kretzschmar, Michael Lingen, Wiebke Maroske, Dirk Mundt, Iciar Sánchez-Albisua, Jürgen Seeger…

    Citation: Orphanet Journal of Rare Diseases 2016 11:104

    Content type: Research

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  39. Pontocerebellar hypoplasia type 2 (PCH2) is caused by a defect in the TSEN54-gene and leads to severe and early disruption of brain development, especially of cerebellum and pons. The aim of this work was to quan...

    Authors: Kaspar Ekert, Samuel Groeschel, Iciar Sánchez-Albisua, Saskia Frölich, Andrea Dieckmann, Corinna Engel and Ingeborg Krägeloh-Mann

    Citation: Orphanet Journal of Rare Diseases 2016 11:100

    Content type: Research

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  40. Hereditary spastic paraparesis (HSP) is a rare neurodegenerative condition characterized by slowly progressive spastic weakness of the lower limbs and urinary sphincter dysfunction. Complex HSP involves additi...

    Authors: Krister W. Fjermestad, Øivind J. Kanavin, Eva E. Næss, Lise B. Hoxmark and Grete Hummelvoll

    Citation: Orphanet Journal of Rare Diseases 2016 11:98

    Content type: Research

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  41. Achondroplasia is a well-defined and common bone dysplasia. Genotype- and phenotype-level correlations have been found between the clinical symptoms of achondroplasia and achondroplasia-specific FGFR3 mutations.

    Authors: Haiming Yuan, Linhuan Huang, Xizi Hu, Qian Li, Xiaofang Sun, Yingjun Xie, Shu Kong and Xiaoman Wang

    Citation: Orphanet Journal of Rare Diseases 2016 11:89

    Content type: Research

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  42. The natural history of clinical symptoms in the spinocerebellar ataxias (SCA)s has been well characterised. However there is little longitudinal data comparing cognitive changes in the most common SCA subtypes...

    Authors: Amy Moriarty, Arron Cook, Helen Hunt, Matthew E. Adams, Lisa Cipolotti and Paola Giunti

    Citation: Orphanet Journal of Rare Diseases 2016 11:82

    Content type: Research

    Published on:

  43. Cerebellar atrophy and developmental delay are commonly associated features in large numbers of genetic diseases that frequently also include epilepsy. These defects are highly heterogeneous on both the geneti...

    Authors: Hisham Megahed, Michaël Nicouleau, Giulia Barcia, Daniel Medina-Cano, Karine Siquier-Pernet, Christine Bole-Feysot, Mélanie Parisot, Cécile Masson, Patrick Nitschké, Marlène Rio, Nadia Bahi-Buisson, Isabelle Desguerre, Arnold Munnich, Nathalie Boddaert, Laurence Colleaux and Vincent Cantagrel

    Citation: Orphanet Journal of Rare Diseases 2016 11:57

    Content type: Research

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  44. Alternating hemiplegia of childhood is an intractable neurological disorder characterized by recurrent episodes of alternating hemiplegia accompanied by other paroxysmal symptoms. Recent research has identifie...

    Authors: Jun Ju, Shinichi Hirose, Xiu-Yu Shi, Atsushi Ishii, Lin-Yan Hu and Li-Ping Zou

    Citation: Orphanet Journal of Rare Diseases 2016 11:55

    Content type: Research

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