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Rare neurological diseases

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  1. Cerebrotendinous xanthomatosis (CTX) is a rare inborn lipid-storage disease caused by mutations in the sterol 27-hydroxylase (CYP27A1) gene with an autosomal recessive pattern of inheritance. To date, only 19 CTX...

    Authors: Qing-Qing Tao, Yun Zhang, Hui-Xia Lin, Hai-Lin Dong, Wang Ni and Zhi-Ying Wu

    Citation: Orphanet Journal of Rare Diseases 2019 14:282

    Content type: Research

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  2. Wolfram syndrome is a rare multisystem disorder caused by mutations in WFS1 or CISD2 genes leading to brain structural abnormalities and neurological symptoms. These abnormalities appear in early stages of the di...

    Authors: Amjad Samara, Rachel Rahn, Olga Neyman, Ki Yun Park, Ahmad Samara, Bess Marshall, Joseph Dougherty and Tamara Hershey

    Citation: Orphanet Journal of Rare Diseases 2019 14:279

    Content type: Review

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  3. Inherited muscle diseases are a group of rare heterogeneous muscle conditions with great impact on quality of life, for which variable prevalence has previously been reported, probably due to case selection bi...

    Authors: Inmaculada Pagola-Lorz, Esther Vicente, Berta Ibáñez, Laura Torné, Itsaso Elizalde-Beiras, Virginia Garcia-Solaesa, Fermín García, Josu Delfrade and Ivonne Jericó

    Citation: Orphanet Journal of Rare Diseases 2019 14:276

    Content type: Research

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  4. Megalencephalic Leukoencephalopathy with subcortical Cysts (MLC) is a rare type of leukodystrophy characterized by astrocyte and myelin vacuolization, epilepsy and early-onset macrocephaly. MLC is caused by mu...

    Authors: Carla Pérez-Rius, Mónica Folgueira, Xabier Elorza-Vidal, A. Alia, Maja B. Hoegg-Beiler, Muhamed N. H. Eeza, María Luz Díaz, Virginia Nunes, Alejandro Barrallo-Gimeno and Raúl Estévez

    Citation: Orphanet Journal of Rare Diseases 2019 14:268

    Content type: Research

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  5. Neurofibromatosis type 1 (NF1) is characterized by an extreme clinical variability both within and between families that cannot be explained solely by the nature of the pathogenic NF1 gene mutations. A proposed m...

    Authors: Antonia Assunto, Ursula Ferrara, Alessandro De Luca, Claudia Pivonello, Lisa Lombardo, Annapina Piscitelli, Cristina Tortora, Valentina Pinna, Paola Daniele, Rosario Pivonello, Maria Giovanna Russo, Giuseppe Limongelli, Annamaria Colao, Marco Tartaglia, Pietro Strisciuglio and Daniela Melis

    Citation: Orphanet Journal of Rare Diseases 2019 14:261

    Content type: Research

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  6. This study aims to test response inhibition in premanifest Huntington’s disease individuals (Pre-HD), in the context of a saccadic paradigm with working memory demands and fronto-executive load as a way to mea...

    Authors: Filipa Júlio, Gina Caetano, Cristina Januário and Miguel Castelo-Branco

    Citation: Orphanet Journal of Rare Diseases 2019 14:246

    Content type: Research

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  7. As human T-cell leukemia virus type 1 (HTLV-1)-associated myelopathy/tropical spastic paraparesis (HAM/TSP) is a rare chronic neurological disease, large scale studies to collect continuous clinical data have ...

    Authors: Shuntaro Tsutsumi, Tomoo Sato, Naoko Yagishita, Junji Yamauchi, Natsumi Araya, Daisuke Hasegawa, Misako Nagasaka, Ariella L. G. Coler-Reilly, Eisuke Inoue, Ayako Takata and Yoshihisa Yamano

    Citation: Orphanet Journal of Rare Diseases 2019 14:227

    Content type: Research

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  8. Charcot-Marie-Tooth (CMT) disease is the most common inherited neuromuscular disorder characterized by wide clinical, genetic and pathomechanistic heterogeneity. Recently, the gene encoding peripheral myelin p...

    Authors: Paulius Palaima, Teodora Chamova, Sebastian Jander, Vanyo Mitev, Christine Van Broeckhoven, Ivailo Tournev, Kristien Peeters and Albena Jordanova

    Citation: Orphanet Journal of Rare Diseases 2019 14:197

    Content type: Research

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  9. Recently an increasing number of digital tools to aid clinical work have been published. This study’s aim was to create an algorithm which can assist physicians as a “digital expert” with the differential diag...

    Authors: Ludwig Kraus, Olympia Kremmyda, Tatiana Bremova-Ertl, Sebastià Barceló, Katharina Feil and Michael Strupp

    Citation: Orphanet Journal of Rare Diseases 2019 14:193

    Content type: Research

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  10. Wolfram syndrome is a rare disorder associated with diabetes mellitus, diabetes insipidus, optic nerve atrophy, hearing and vision loss, and neurodegeneration. Sleep complaints are common but have not been stu...

    Authors: Amy Licis, Gabriel Davis, Sarah A. Eisenstein, Heather M. Lugar and Tamara Hershey

    Citation: Orphanet Journal of Rare Diseases 2019 14:188

    Content type: Research

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  11. Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive neurodegenerative disorder with brain iron accumulation (NBIA).

    Authors: Randall D. Marshall, Abigail Collins, Maria L. Escolar, H. A. Jinnah, Thomas Klopstock, Michael C. Kruer, Aleksandar Videnovic, Amy Robichaux-Viehoever, Colleen Burns, Laura L. Swett, Dennis A. Revicki, Randall H. Bender and William R. Lenderking

    Citation: Orphanet Journal of Rare Diseases 2019 14:174

    Content type: Research

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  12. Wilson disease (WD) is a genetic disorder involving impaired copper metabolism, which presents with hepatic, neurological, and/or psychiatric manifestations. WD requires lifelong pharmacotherapy and treatment ...

    Authors: Wojciech Maselbas, Tomasz Litwin and Anna Czlonkowska

    Citation: Orphanet Journal of Rare Diseases 2019 14:167

    Content type: Research

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  13. Niemann-Pick disease Type C (NP-C) is a lysosomal lipid storage disorder with varying symptomatology depending on the age of onset. The diagnosis of NP-C is challenging due to heterogeneous nonspecific clinica...

    Authors: Mercedes Pineda, Katarína Juríčková, Parvaneh Karimzadeh, Miriam Kolniková, Věra Malinová, Juan Torres and Stefan A. Kolb

    Citation: Orphanet Journal of Rare Diseases 2019 14:161

    Content type: Research

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  14. Sporadic inclusion body myositis (sIBM) is the most prevalent muscle disease in elderly people, affecting the daily activities. sIBM is progressive with unknown cause and without effective treatment. In 2015, ...

    Authors: Naoki Suzuki, Madoka Mori-Yoshimura, Satoshi Yamashita, Satoshi Nakano, Ken-ya Murata, Megumi Mori, Yukie Inamori, Naoko Matsui, En Kimura, Hirofumi Kusaka, Tomoyoshi Kondo, Hidefumi Ito, Itsuro Higuchi, Akihiro Hashiguchi, Hiroyuki Nodera, Ryuji Kaji…

    Citation: Orphanet Journal of Rare Diseases 2019 14:155

    Content type: Research

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  15. Lafora disease (LD) is a rare, lethal, progressive myoclonus epilepsy for which no targeted therapy is currently available. Studies on a mouse model of LD showed a good response to metformin, a drug with a wel...

    Authors: Francesca Bisulli, Lorenzo Muccioli, Giuseppe d’Orsi, Laura Canafoglia, Elena Freri, Laura Licchetta, Barbara Mostacci, Patrizia Riguzzi, Federica Pondrelli, Carlo Avolio, Tommaso Martino, Roberto Michelucci and Paolo Tinuper

    Citation: Orphanet Journal of Rare Diseases 2019 14:149

    Content type: Letter to the Editor

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  16. Satoyoshi syndrome is a multisystemic rare disease of unknown etiology, although an autoimmune basis is presumed. Its main symptoms are: painful muscle spasms, diarrhea, alopecia and skeletal abnormalities. Cl...

    Authors: Julián Solís-García del Pozo, Carlos de Cabo and Javier Solera

    Citation: Orphanet Journal of Rare Diseases 2019 14:146

    Content type: Review

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  17. 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

    Content type: Letter to the Editor

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  18. 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

    Content type: Research

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  19. 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

    Content type: Research

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  20. 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

    Content type: Letter to the Editor

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  21. 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

    Content type: Research

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  22. 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

    Content type: Review

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  23. 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

    Content type: Review

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  24. 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

    Content type: Review

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  25. 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

    Content type: Research

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  26. 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

    Content type: Letter to the Editor

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  27. 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

    Content type: Research

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  28. 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

    Content type: Research

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  29. 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

    Content type: Research

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  30. 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

    Content type: Research

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  31. 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

    Content type: Research

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  32. 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

    Content type: Research

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  33. 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

    Content type: Letter to the Editor

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  34. 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

    Content type: Research

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  35. 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

    Content type: Research

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  36. 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

    Content type: Research

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    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2019 14:199

  37. 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

    Content type: Research

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  38. 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

    Content type: Review

    Published on:

  39. 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

    Content type: Research

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  40. 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

    Content type: Research

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  41. 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

    Content type: Research

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  42. 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

    Content type: Research

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  43. 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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  44. 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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  45. 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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