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Rare neurological diseases

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  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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
  11. 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
  12. 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
  13. 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
  14. 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
  15. 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
  16. 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
  17. 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