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Rare neurological diseases

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  1. 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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  2. 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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  3. 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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  4. 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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  5. 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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  6. 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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  7. 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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  8. 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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  9. 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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  10. 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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  11. 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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  12. 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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  13. 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

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  14. This study aimed at analyzing the economic burden and disease-specific health-related quality of life (HRQOL) of patients with spinal muscular atrophy (SMA) in Germany. SMA is a so far non-curable neuromuscula...

    Authors: Constanze Klug, Olivia Schreiber-Katz, Simone Thiele, Elisabeth Schorling, Janet Zowe, Peter Reilich, Maggie C. Walter and Klaus H. Nagels

    Citation: Orphanet Journal of Rare Diseases 2016 11:58

    Content type: Research

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  15. 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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  16. 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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  17. Infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD) has been recently linked to biallelic mutation of the peptidyl-tRNA hydrolase 2 gene PTRH2. Two index patients with IMNEPD in the...

    Authors: Sylvie Picker-Minh, Cyril Mignot, Diane Doummar, Mais Hashem, Eissa Faqeih, Patrice Josset, Béatrice Dubern, Fowzan S. Alkuraya, Nadine Kraemer and Angela M. Kaindl

    Citation: Orphanet Journal of Rare Diseases 2016 11:52

    Content type: Letter to the Editor

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  18. The Neuronal Ceroid Lipofuscinoses (NCLs) are a family of autosomal recessive neurodegenerative disorders that annually affect 1:100,000 live births worldwide. This family of diseases results from mutations in...

    Authors: Ryan D. Geraets, Seung yon Koh, Michelle L. Hastings, Tammy Kielian, David A. Pearce and Jill M. Weimer

    Citation: Orphanet Journal of Rare Diseases 2016 11:40

    Content type: Review

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  19. Initially described as an early onset seizure variant of Rett syndrome, the CDKL5 disorder is now considered as an independent entity. However, little is currently known about the full spectrum of comorbiditie...

    Authors: Meghana Mangatt, Kingsley Wong, Barbara Anderson, Amy Epstein, Stuart Hodgetts, Helen Leonard and Jenny Downs

    Citation: Orphanet Journal of Rare Diseases 2016 11:39

    Content type: Research

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  20. De novo heterozygous mutations in the GNAO1 gene, encoding the Gα o subunit of G-proteins, are the cause of a severe neurodevelopmental disorder, featuring early infantile seizures, pr...

    Authors: Anna Marcé-Grau, James Dalton, Javier López-Pisón, María Concepción García-Jiménez, Lorena Monge-Galindo, Ester Cuenca-León, Jesús Giraldo and Alfons Macaya

    Citation: Orphanet Journal of Rare Diseases 2016 11:38

    Content type: Research

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  21. Myotonic dystrophy type 1 (Steinert’s disease or DM1), the most common form of autosomal dominant muscular dystrophy in adults, is a multisystem disorder, affecting skeletal muscle as well as eyes, heart, gast...

    Authors: Sigrid Baldanzi, Francesca Bevilacqua, Rita Lorio, Leda Volpi, Costanza Simoncini, Antonio Petrucci, Mirco Cosottini, Gabriele Massimetti, Gloria Tognoni, Giulia Ricci, Corrado Angelini and Gabriele Siciliano

    Citation: Orphanet Journal of Rare Diseases 2016 11:34

    Content type: Research

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  22. Vici syndrome [OMIM242840] is a severe, recessively inherited congenital disorder characterized by the principal features of callosal agenesis, cataracts, oculocutaneous hypopigmentation, cardiomyopathy, and a...

    Authors: Susan Byrne, Carlo Dionisi-Vici, Luke Smith, Mathias Gautel and Heinz Jungbluth

    Citation: Orphanet Journal of Rare Diseases 2016 11:21

    Content type: Review

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  23. Randomized controlled trials (RCTs) are the gold standard design of clinical research to assess interventions. However, RCTs cannot always be applied for practical or ethical reasons. To investigate the curren...

    Authors: Steffen Unkel, Christian Röver, Nigel Stallard, Norbert Benda, Martin Posch, Sarah Zohar and Tim Friede

    Citation: Orphanet Journal of Rare Diseases 2016 11:16

    Content type: Research

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  24. Posterior cortical atrophy (PCA) represents a special clinicoradiologic syndrome characterized by progressive visuospatial and visuoperceptual deficits. PCA and corticobasal syndrome (CBS) may share similar pa...

    Authors: Guoping Peng, Ping Liu, Fangping He and Benyan Luo

    Citation: Orphanet Journal of Rare Diseases 2016 11:13

    Content type: Letter to the Editor

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  25. Neuropsychiatric disorders are present in up to 90 % of patients with Tuberous Sclerosis Complex (TSC), and represent an important issue for families. Autism Spectrum Disorder (ASD) is the most common neurobeh...

    Authors: Aglaia Vignoli, Francesca La Briola, Angela Peron, Katherine Turner, Chiara Vannicola, Monica Saccani, Elisabetta Magnaghi, Giulia Federica Scornavacca and Maria Paola Canevini

    Citation: Orphanet Journal of Rare Diseases 2015 10:154

    Content type: Research

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  26. The hereditary spastic paraplegias (HSPs) are rare neurodegenerative gait disorders which are genetically highly heterogeneous. For each single form, eventual consideration of therapeutic strategies requires a...

    Authors: Amir Jahic, Mukhran Khundadze, Nadine Jaenisch, Rebecca Schüle, Sven Klimpe, Stephan Klebe, Christiane Frahm, Jan Kassubek, Giovanni Stevanin, Ludger Schöls, Alexis Brice, Christian A. Hübner and Christian Beetz

    Citation: Orphanet Journal of Rare Diseases 2015 10:147

    Content type: Research

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  27. Phosphomannomutase deficiency (PMM2-CDG) is the most frequent congenital disorder of glycosylation. The cerebellum is nearly always affected in PMM2-CDG patients, a cerebellar atrophy progression is observed, ...

    Authors: Mercedes Serrano, Víctor de Diego, Jordi Muchart, Daniel Cuadras, Ana Felipe, Alfons Macaya, Ramón Velázquez, M. Pilar Poo, Carmen Fons, M. Mar O’Callaghan, Angels García-Cazorla, Cristina Boix, Bernabé Robles, Francisco Carratalá, Marisa Girós, Paz Briones…

    Citation: Orphanet Journal of Rare Diseases 2015 10:138

    Content type: Research

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  28. In order to plan and improve provision of comprehensive care in Huntington’s disease (HD), it is critical to understand the gaps in healthcare and social support services provided to HD patients. Research has ...

    Authors: Marleen R. van Walsem, Emilie I. Howe, Kristin Iversen, Jan C. Frich and Nada Andelic

    Citation: Orphanet Journal of Rare Diseases 2015 10:124

    Content type: Research

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  29. Mutations in the gene ATP1A3 have recently been identified to be prevalent in patients with alternating hemiplegia of childhood (AHC2). Based on a large series of patients with AHC, we set out to identify the spe...

    Authors: Eleni Panagiotakaki, Elisa De Grandis, Michela Stagnaro, Erin L. Heinzen, Carmen Fons, Sanjay Sisodiya, Boukje de Vries, Christophe Goubau, Sarah Weckhuysen, David Kemlink, Ingrid Scheffer, Gaëtan Lesca, Muriel Rabilloud, Amna Klich, Alia Ramirez-Camacho, Adriana Ulate-Campos…

    Citation: Orphanet Journal of Rare Diseases 2015 10:123

    Content type: Research

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  30. Friedreich ataxia is an autosomal recessive hereditary spinocerebellar disorder, characterized by progressive limb and gait ataxia due to proprioceptive loss, often complicated by cardiomyopathy, diabetes and ...

    Authors: Iselin Marie Wedding, Mette Kroken, Sandra Pilar Henriksen, Kaja Kristine Selmer, Torunn Fiskerstrand, Per Morten Knappskog, Tone Berge and Chantal ME Tallaksen

    Citation: Orphanet Journal of Rare Diseases 2015 10:108

    Content type: Research

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  31. Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder associated with a terminal deletion affecting chromosome 22 (22q13) that results in the loss of function of the SHANK3 gene. SHANK3 has also been...

    Authors: Lindsay M. Oberman, Luigi Boccuto, Lauren Cascio, Sara Sarasua and Walter E. Kaufmann

    Citation: Orphanet Journal of Rare Diseases 2015 10:105

    Content type: Research

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  32. Improved knowledge of the quality of life (QoL) of locked-in syndrome (LIS) patients have implications for managing their care, and assists clinicians in choosing the most appropriate interventions. We perform...

    Authors: Marie-Christine Rousseau, Karine Baumstarck, Marine Alessandrini, Véronique Blandin, Thierry Billette de Villemeur and Pascal Auquier

    Citation: Orphanet Journal of Rare Diseases 2015 10:88

    Content type: Research

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  33. Sneddon’s syndrome (SS) is a rare non-inflammatory thrombotic vasculopathy characterized by the combination of cerebrovascular disease with livedo racemosa(LR). The Orpha number for SS is ORPHA820. It has been...

    Authors: Shengjun Wu, Ziqi Xu and Hui Liang

    Citation: Orphanet Journal of Rare Diseases 2014 9:215

    Content type: Review

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  34. Kearns-Sayre syndrome (KSS) is a mitochondrial DNA deletion syndrome that presents with profound cerebral folate deficiency and other features. Preliminary data support the notion that folinic acid therapy mig...

    Authors: Pilar Quijada-Fraile, Mar O’Callaghan, Elena Martín-Hernández, Raquel Montero, Àngels Garcia-Cazorla, Ana Martínez de Aragón, Jordi Muchart, Ignacio Málaga, Rafael Pardo, Pedro García-Gonzalez, Cristina Jou, Julio Montoya, Sonia Emperador, Eduardo Ruiz-Pesini, Joaquín Arenas, Miguel Angel Martin…

    Citation: Orphanet Journal of Rare Diseases 2014 9:217

    Content type: Research

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  35. The efficacy of thymectomy in patients with non-thymomatous Myasthenia Gravis (MG) is still unclear. Main limitations have been variable outcome definitions, lack of a control group and adjustment for confound...

    Authors: Carolina Barnett, Hans D Katzberg, Shaf Keshavjee and Vera Bril

    Citation: Orphanet Journal of Rare Diseases 2014 9:214

    Content type: Research

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  36. Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common inherited sensory and motor peripheral neuropathy. It is caused by PMP22 overexpression which leads to defects of peripheral myelination, loss of lon...

    Authors: Ilya Chumakov, Aude Milet, Nathalie Cholet, Gwenaël Primas, Aurélie Boucard, Yannick Pereira, Esther Graudens, Jonas Mandel, Julien Laffaire, Julie Foucquier, Fabrice Glibert, Viviane Bertrand, Klaus-Armin Nave, Michael W Sereda, Emmanuel Vial, Mickaël Guedj…

    Citation: Orphanet Journal of Rare Diseases 2014 9:201

    Content type: Research

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  37. Friedreich ataxia (FRDA), a multisystem autosomal recessive condition, is the most common inherited ataxia in Caucasians, affecting approximately 1 in 29,000 individuals. The hallmark clinical features of FRDA...

    Authors: Louise A Corben, David Lynch, Massimo Pandolfo, Jörg B Schulz and Martin B Delatycki

    Citation: Orphanet Journal of Rare Diseases 2014 9:184

    Content type: Review

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  38. Dystonia, cerebellar atrophy, and cardiomyopathy constitute a rare association.

    Authors: Imen Dorboz, Marie Coutelier, Anne T Bertrand, Jean-Hubert Caberg, Monique Elmaleh-Bergès, Jeanne Lainé, Giovanni Stevanin, Gisèle Bonne, Odile Boespflug-Tanguy and Laurent Servais

    Citation: Orphanet Journal of Rare Diseases 2014 9:174

    Content type: Research

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  39. The association of ovarian teratoma and anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is a serious and potentially fatal pathology that occurs in young women and that is under-recognized. Our objecti...

    Authors: Pedro Acién, Maribel Acién, Eva Ruiz-Maciá and Carlos Martín-Estefanía

    Citation: Orphanet Journal of Rare Diseases 2014 9:157

    Content type: Review

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