Skip to main content

Advertisement

Rare neurological diseases

Page 3 of 3

  1. 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

    Published on:

  2. 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

    Published on:

  3. 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

    Published on:

  4. 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

    Published on:

  5. 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

    Published on:

  6. 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

    Published on:

  7. 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

    Published on:

  8. 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

    Published on:

  9. 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

    Published on:

  10. 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

    Published on:

  11. 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

    Published on:

  12. 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

    Published on:

  13. 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

    Published on:

  14. 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

    Published on:

  15. 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

    Published on:

  16. 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

    Published on:

  17. 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

    Published on:

  18. 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

    Published on:

  19. 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

    Published on:

  20. 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

    Published on:

  21. 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

    Published on:

  22. 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

    Published on:

Advertisement