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Rare neurological diseases

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  1. Content type: Letter to the Editor

    Skeletal muscle wasting is a hallmark of Huntington’s disease (HD). However, data on myocellular characteristics and myofiber remodeling in HD patients are scarce. We aimed at gaining insights into myocellular...

    Authors: Sandro Manuel Mueller, Violeta Mihaylova, Sebastian Frese, Jens A. Petersen, Maria Ligon-Auer, David Aguayo, Martin Flück, Hans H. Jung and Marco Toigo

    Citation: Orphanet Journal of Rare Diseases 2019 14:135

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  2. Content type: Research

    The relevance of registries as a key component for developing clinical research for rare diseases (RD) and improving patient care has been acknowledged by most stakeholders. As recent studies pointed to severa...

    Authors: Marie De Antonio, Céline Dogan, Ferroudja Daidj, Bruno Eymard, Jack Puymirat, Jean Mathieu, Cynthia Gagnon, Sandrine Katsahian, Dalil Hamroun and Guillaume Bassez

    Citation: Orphanet Journal of Rare Diseases 2019 14:122

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  3. Content type: Research

    Hereditary transthyretin amyloidosis (ATTRv amyloidosis) is caused by a variant transthyretin (TTR), which is a serum protein secreted by the liver. Mass spectrometry (MS) is a useful tool that can detect vari...

    Authors: Toshiya Nomura, Mitsuharu Ueda, Masayoshi Tasaki, Yohei Misumi, Teruaki Masuda, Yasuteru Inoue, Yukimoto Tsuda, Masamitsu Okada, Takahiro Okazaki, Kyosuke Kanenawa, Aito Isoguchi, Makoto Nakamura, Konen Obayashi, Satoru Shinriki, Hirotaka Matsui, Taro Yamashita…

    Citation: Orphanet Journal of Rare Diseases 2019 14:116

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  4. Content type: Letter to the Editor

    Linear scleroderma “en coup de sabre” (LSES) variant is a cephalic subtype of localized scleroderma that can be associated with extracutaneous stigmata, such as epilepsy, dementia syndromes, as well as focal c...

    Authors: Cynthia M. Magro, Pierre Halteh, Luke C. Olson, Ilya Kister and Lee Shapiro

    Citation: Orphanet Journal of Rare Diseases 2019 14:110

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  5. Content type: Research

    Spinal muscular atrophy (SMA) has profound implications across a lifetime for people with the condition and their families. Those affected need long-term multidisciplinary medical and supportive care to mainta...

    Authors: Hamish W. Y. Wan, Kate A. Carey, Arlene D’Silva, Nadine A. Kasparian and Michelle A. Farrar

    Citation: Orphanet Journal of Rare Diseases 2019 14:74

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  6. Content type: Review

    Congenital myasthenic syndromes (CMSs) are a genotypically and phenotypically heterogeneous group of neuromuscular disorders, which have in common an impaired neuromuscular transmission. Since the field of CMS...

    Authors: Josef Finsterer

    Citation: Orphanet Journal of Rare Diseases 2019 14:57

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  7. Content type: Review

    The progressive ataxias are a group of rare and complicated neurological disorders, knowledge of which is often poor among healthcare professionals (HCPs). The patient support group Ataxia UK, recognising the ...

    Authors: Rajith de Silva, Julie Greenfield, Arron Cook, Harriet Bonney, Julie Vallortigara, Barry Hunt and Paola Giunti

    Citation: Orphanet Journal of Rare Diseases 2019 14:51

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  8. Content type: Review

    The treatment of tuberous sclerosis complex (TSC) using mammalian target of rapamycin (mTOR) inhibitors is clinically promising. The aim of the present study was to evaluate the efficacy and safety of mTOR inh...

    Authors: Min Li, Ying Zhou, Chaoyang Chen, Ting Yang, Shuang Zhou, Shuqing Chen, Ye Wu and Yimin Cui

    Citation: Orphanet Journal of Rare Diseases 2019 14:39

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  9. Content type: Research

    Niemann-Pick disease Type C (NP-C) is a lysosomal lipid storage disorder characterized by progressive neurodegenerative symptomatology. The signs and symptoms of NP-C vary with age at disease onset, and availa...

    Authors: Mercedes Pineda, Katarína Juríčková, Parvaneh Karimzadeh, Miriam Kolnikova, Vera Malinova, Jose Luis Insua, Christian Velten and Stefan A. Kolb

    Citation: Orphanet Journal of Rare Diseases 2019 14:32

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  10. Content type: Letter to the Editor

    Giant axonal neuropathy (GAN; ORPHA: 643; OMIM# 256850) is a rare, hereditary, pediatric neurodegenerative disorder associated with intracellular accumulations of intermediate filaments (IFs). GAN knockout (KO...

    Authors: Diane Armao, Thomas W. Bouldin, Rachel M. Bailey, Jody E. Hooper, Diana X. Bharucha and Steven J. Gray

    Citation: Orphanet Journal of Rare Diseases 2019 14:27

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  11. Content type: Research

    While extraocular muscles are affected early in myasthenia gravis (MG), but respond to treatment, we observe a high incidence of treatment-resistant ophthalmoplegia (OP-MG) among MG subjects with African genet...

    Authors: Melissa Nel, Sharon Prince and Jeannine M. Heckmann

    Citation: Orphanet Journal of Rare Diseases 2019 14:24

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  12. Content type: Research

    CLN6-Batten disease is a rare neurodevelopmental disorder characterized pathologically by the accumulation of lysosomal storage material, glial activation and neurodegeneration, and phenotypically by loss of v...

    Authors: McKayla J. Poppens, Jacob T. Cain, Tyler B. Johnson, Katherine A. White, Samantha S. Davis, Rachel Laufmann, Alexander D. Kloth and Jill M. Weimer

    Citation: Orphanet Journal of Rare Diseases 2019 14:19

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  13. Content type: Research

    Survival and quality of life for patients affected by spinal muscular atrophy (SMA) are thought to have improved over the last decade due to changes in care. In addition, targeted treatments for SMA have been ...

    Authors: Astrid Pechmann, Kirsten König, Günther Bernert, Kristina Schachtrup, Ulrike Schara, David Schorling, Inge Schwersenz, Sabine Stein, Adrian Tassoni, Sibylle Vogt, Maggie C. Walter, Hanns Lochmüller and Janbernd Kirschner

    Citation: Orphanet Journal of Rare Diseases 2019 14:18

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  14. Content type: Research

    Dysregulation of the inositol cycle is implicated in a wide variety of human diseases, including developmental defects and neurological diseases. A homozygous frameshift mutation in IMPA1, coding for the enzyme i...

    Authors: Christopher P. Walker, Andre L. S. Pessoa, Thalita Figueiredo, Megan Rafferty, Uirá S. Melo, Paulo R. Nóbrega, Nicholas Murphy, Fernando Kok, Mayana Zatz, Silvana Santos and Raymond Y. Cho

    Citation: Orphanet Journal of Rare Diseases 2019 14:3

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  15. Content type: Research

    Emerging evidence suggests that several factors can impact disease progression in transthyretin amyloid polyneuropathy (ATTR-PN). The present analysis used longitudinal data from Val30Met patients participatin...

    Authors: Leslie Amass, Huihua Li, Balarama K. Gundapaneni, Jeffrey H. Schwartz and Denis J. Keohane

    Citation: Orphanet Journal of Rare Diseases 2018 13:225

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  16. Content type: Research

    High-resolution nerve ultrasound (HRUS) is a painless tool to quickly evaluate peripheral nerve morphology in vivo. This study set out to characterize peripheral nerve involvement in X-linked adrenomyeloneurop...

    Authors: Tim W. Rattay, Jennifer Just, Benjamin Röben, Holger Hengel, Rebecca Schüle, Matthis Synofzik, Anne S. Söhn, Natalie Winter, Nele Dammeier, Ludger Schöls and Alexander Grimm

    Citation: Orphanet Journal of Rare Diseases 2018 13:194

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  17. Content type: Letter to the Editor

    Transthyretin (TTR)-related familial amyloid polyneuropathy (TTR-FAP) is a life-threatening autosomal dominant, systemic disease. First symptoms usually occur from the second to over sixth decade of life with ...

    Authors: Marina Grandis, Alessandro Geroldi, Rossella Gulli, Fiore Manganelli, Fabio Gotta, Merit Lamp, Paola Origone, Lucia Trevisan, Chiara Gemelli, Sabrina Fabbri, Angelo Schenone, Stefano Tozza, Lucio Santoro, Emilia Bellone and Paola Mandich

    Citation: Orphanet Journal of Rare Diseases 2018 13:177

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  18. Content type: Research

    Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) is a recessive neurological disorder with cerebellar, pyramidal and neuropathic features. Natural history data are urgently needed to increase...

    Authors: Cynthia Gagnon, Bernard Brais, Isabelle Lessard, Caroline Lavoie, Isabelle Côté and Jean Mathieu

    Citation: Orphanet Journal of Rare Diseases 2018 13:165

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  19. Content type: Research

    To determine the value of a continuous repetitive task to detect and quantify fatigability as additional dimension of impaired motor function in patients with hereditary proximal spinal muscular atrophy (SMA).

    Authors: Marloes Stam, Renske I. Wadman, Bart Bartels, Maureen Leeuw, Henk-Jan Westeneng, Camiel A. Wijngaarde, Leonard H. van den Berg and W. Ludo van der Pol

    Citation: Orphanet Journal of Rare Diseases 2018 13:160

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  20. Content type: Research

    Myotonic Dystrophy is the most common form of muscular dystrophy in adults, affecting an estimated 10 per 100,000 people. It is a multisystemic disorder affecting multiple generations with increasing severity....

    Authors: Libby Wood, Guillaume Bassez, Corinne Bleyenheuft, Craig Campbell, Louise Cossette, Aura Cecilia Jimenez-Moreno, Yi Dai, Hugh Dawkins, Jorge Alberto Diaz Manera, Celine Dogan, Rasha el Sherif, Barbara Fossati, Caroline Graham, James Hilbert, Kristinia Kastreva, En Kimura…

    Citation: Orphanet Journal of Rare Diseases 2018 13:155

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  21. Content type: Research

    Minocycline is an old tetracycline antibiotic that has shown antiinflammatory and antiapoptotic properties in different neurological disease mouse models. Previous single arm study in humans demonstrated benef...

    Authors: Belén Ruiz-Antoran, Aranzazu Sancho-López, Rosario Cazorla-Calleja, Luis Fernando López-Pájaro, Ágata Leiva, Gema Iglesias-Escalera, Maria Esperanza Marín-Serrano, Marta Rincón-Ortega, Julián Lara-Herguedas, Teresa Rossignoli-Palomeque, Sara Valiente-Rodríguez, Javier González-Marques, Enriqueta Román-Riechmann and Cristina Avendaño-Solá

    Citation: Orphanet Journal of Rare Diseases 2018 13:144

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  22. Content type: Review

    Complex neurodevelopmental disorders need multi-disciplinary treatment approaches for optimal care. The clinical effectiveness of treatments is limited in patients with rare genetic syndromes with multisystem ...

    Authors: Jatinder Singh and Paramala Santosh

    Citation: Orphanet Journal of Rare Diseases 2018 13:128

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  23. Content type: Research

    Dystrophinopathies are a set of severe and incurable X-linked neuromuscular disorders caused by mutations in the dystrophin gene (DMD). These mutations form a complex spectrum. A national registration network is ...

    Authors: Peipei Ma, Shu Zhang, Hao Zhang, Siying Fang, Yuru Dong, Yan Zhang, Weiwei Hao, Shiwen Wu and Yuying Zhao

    Citation: Orphanet Journal of Rare Diseases 2018 13:109

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  24. Content type: Research

    Transthyretin-related hereditary amyloidosis (ATTR) is a systemic disease characterized by extracellular deposits of amyloid due to the autosomal dominant inheritance of a mutation in the TTR gene (18q12.1). A...

    Authors: Alejandra González-Duarte, Karla Cárdenas-Soto, Carlo Enrico Bañuelos, Omar Fueyo, Carolina Dominguez, Benjamín Torres and Carlos Cantú-Brito

    Citation: Orphanet Journal of Rare Diseases 2018 13:107

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  25. Content type: Research

    RYR1-related Myopathies (RYR1-RM) comprise a group of rare neuromuscular diseases (NMDs) occurring in approximately 1/90000 people in the US pediatric population. RYR1-RM result from pathogenic mutations in the r...

    Authors: Jessica W. Witherspoon, Ruhi P. Vasavada, Melissa R. Waite, Monique Shelton, Irene C. Chrismer, Paul G. Wakim, Minal S. Jain, Carsten G. Bönnemann and Katherine G. Meilleur

    Citation: Orphanet Journal of Rare Diseases 2018 13:105

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  26. Content type: Research

    ATP8A2 mutations have recently been described in several patients with severe, early-onset hypotonia and cognitive impairment. The aim of our study was to characterize the clinical phenotype of patients with ATP8...

    Authors: Hugh J. McMillan, Aida Telegrafi, Amanda Singleton, Megan T. Cho, Daniel Lelli, Francis C. Lynn, Julie Griffin, Alexander Asamoah, Tuula Rinne, Corrie E. Erasmus, David A. Koolen, Charlotte A. Haaxma, Boris Keren, Diane Doummar, Cyril Mignot, Islay Thompson…

    Citation: Orphanet Journal of Rare Diseases 2018 13:86

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  27. Content type: Review

    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

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  28. Content type: Research

    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

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  29. Content type: Position statement

    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

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  30. Content type: Letter to the Editor

    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

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  31. Content type: Research

    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

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  32. Content type: Research

    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

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  33. Content type: Review

    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

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

  34. Content type: Research

    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

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  35. Content type: Letter to the Editor

    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

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  36. Content type: Review

    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

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  37. Content type: Research

    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

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  38. Content type: Research

    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

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  39. Content type: Research

    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

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  40. Content type: Research

    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

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  41. Content type: Letter to the Editor

    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

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  42. Content type: Letter to the Editor

    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

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  43. Content type: Research

    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

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