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Rare neurological diseases

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  1. Canavan disease (CD, MIM # 271900) is a rare and devastating leukodystrophy of early childhood. To identify clinical features that could serve as endpoints for treatment trials, the clinical course of CD was s...

    Authors: Annette Bley, Jonas Denecke, Alfried Kohlschütter, Gerhard Schön, Sandra Hischke, Philipp Guder, Tatjana Bierhals, Heather Lau, Maja Hempel and Florian S. Eichler

    Citation: Orphanet Journal of Rare Diseases 2021 16:227

    Content type: Research

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  2. Rare and severe neurological disorders in childhood not only heavily affect the life perspective of the patients, but also their caregivers and families. The aim of this study was to investigate the impact of ...

    Authors: Louisa Ammann-Schnell, Samuel Groeschel, Christiane Kehrer, Saskia Frölich and Ingeborg Krägeloh-Mann

    Citation: Orphanet Journal of Rare Diseases 2021 16:211

    Content type: Research

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  3. Spinal muscular atrophy (SMA) is one of the most frequent and severe genetic diseases leading to premature death or severe motor disability. New therapies have been developed in recent years that change the na...

    Authors: Anna Lusakowska, Maria Jedrzejowska, Anna Kaminska, Katarzyna Janiszewska, Przemysław Grochowski, Janusz Zimowski, Janusz Sierdzinski and Anna Kostera-Pruszczyk

    Citation: Orphanet Journal of Rare Diseases 2021 16:150

    Content type: Research

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  4. Patient involvement in research increases the impact of research and the likelihood of adoption in clinical practice. A first step is to know which research themes are important for patients. We distributed a ...

    Authors: Annemarie E. M. Post, Thomas Klockgether, G. Bernhard Landwehrmeyer, Massimo Pandolfo, Astri Arnesen, Carola Reinhard and Holm Graessner

    Citation: Orphanet Journal of Rare Diseases 2021 16:135

    Content type: Research

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  5. Ataxia telangiectasia (A-T) is a DNA repair disorder that affects multiple body systems. Neurological problems and immunodeficiency are two important features of this disease. At this time, two main severity g...

    Authors: Valerie A. I. Natale, Tim J. Cole, Cynthia Rothblum-Oviatt, Jennifer Wright, Thomas O. Crawford, Maureen A. Lefton-Greif, Sharon A. McGrath-Morrow, Haley Schlechter and Howard M. Lederman

    Citation: Orphanet Journal of Rare Diseases 2021 16:123

    Content type: Research

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    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2021 16:248

  6. Autosomal recessive axonal neuropathy with neuromyotonia has been linked to loss of functional HINT1. The disease is particularly prevalent in Central and South-East Europe, Turkey and Russia due to the high c...

    Authors: Silvia Amor-Barris, Helle Høyer, Lin V. Brauteset, Els De Vriendt, Linda Strand, Albena Jordanova, Geir J. Braathen and Kristien Peeters

    Citation: Orphanet Journal of Rare Diseases 2021 16:116

    Content type: Research

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  7. There is great heterogeneity on geographic and temporary Huntington disease (HD) epidemiological estimates. Most research studies of rare diseases, including HD, use health information systems (HIS) as data so...

    Authors: Esther Vicente, Ainara Ruiz de Sabando, Fermín García, Itziar Gastón, Eva Ardanaz and María A. Ramos-Arroyo

    Citation: Orphanet Journal of Rare Diseases 2021 16:77

    Content type: Research

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  8. The elucidation of pathomechanisms leading to the manifestation of rare (genetically caused) neurological diseases including neuromuscular diseases (NMD) represents an important step toward the understanding o...

    Authors: Andreas Hentschel, Artur Czech, Ute Münchberg, Erik Freier, Ulrike Schara-Schmidt, Albert Sickmann, Jens Reimann and Andreas Roos

    Citation: Orphanet Journal of Rare Diseases 2021 16:73

    Content type: Research

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  9. Transthyretin amyloidosis, or ATTR, is a progressive and debilitating rare proteopathy generally manifested as either transthyretin amyloid polyneuropathy (ATTR-PN) or transthyretin amyloid cardiomyopathy (ATT...

    Authors: David Rintell, Dena Heath, Florencia Braga Mendendez, Elizabeth Cross, Theodore Cross, Vincent Knobel, Bruno Gagnon, Cameron Turtle, Alan Cohen, Edward Kalmykov and Jonathan Fox

    Citation: Orphanet Journal of Rare Diseases 2021 16:70

    Content type: Research

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  10. Being a newly defined disease, RVCL-S is underrecognized by clinicians globally. It is an autosomal dominantly inherited small vessel disease caused by the heterozygous C-terminal frameshift mutation in TREX1 gen...

    Authors: Nina Xie, Qiying Sun, Jinxia Yang, Yangjie Zhou, Hongwei Xu, Lin Zhou and Yafang Zhou

    Citation: Orphanet Journal of Rare Diseases 2021 16:56

    Content type: Research

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  12. Movement disorders are a group of heterogeneous neurological diseases including hyperkinetic disorders with unwanted excess movements and hypokinetic disorders with reduction in the degree of movements. The ob...

    Authors: Anna Ka-Yee Kwong, Mandy Ho-Yin Tsang, Jasmine Lee-Fong Fung, Christopher Chun-Yu Mak, Kate Lok-San Chan, Richard J. T. Rodenburg, Monkol Lek, Shushu Huang, Sander Pajusalu, Man-Mut Yau, Cheung Tsoi, Sharon Fung, Kam-Tim Liu, Che-Kwan Ma, Sheila Wong, Eric Kin-Cheong Yau…

    Citation: Orphanet Journal of Rare Diseases 2021 16:32

    Content type: Research

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  13. Diffuse interstitial lung disease have been described in Neurofibromatosis type 1 (NF1), but its diversity and prevalence remain unknown. The aim of this study was to assess the prevalence and characteristics ...

    Authors: Maxim Avanesov, Lennart Well, Azien Laqmani, Thorsten Derlin, Vincent M. Riccardi, Gerhard Adam, Victor-Felix Mautner and Johannes Salamon

    Citation: Orphanet Journal of Rare Diseases 2021 16:29

    Content type: Research

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  14. Rett syndrome (RS) is a severe neurodevelopmental disorder for which there is no approved therapy. This study aimed to assess safety and efficacy of oral fingolimod in children with RS using a pre-post and ca...

    Authors: Yvonne Naegelin, Jens Kuhle, Sabine Schädelin, Alexandre N. Datta, Stefano Magon, Michael Amann, Christian Barro, Gian Paolo Ramelli, Kate Heesom, Yves-Alain Barde, Peter Weber and Ludwig Kappos

    Citation: Orphanet Journal of Rare Diseases 2021 16:19

    Content type: Research

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  15. To characterize the prevalence, onset, and burden of urinary and bowel dysfunction in adult patients with adrenoleukodystrophy (ALD) and to evaluate any sex differences in symptom presentation.

    Authors: Camille S. Corre, Natalie Grant, Reza Sadjadi, Douglas Hayden, Catherine Becker, Pablo Gomery and Florian S. Eichler

    Citation: Orphanet Journal of Rare Diseases 2021 16:14

    Content type: Research

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  16. Spinal muscular atrophy (SMA) issues from mutations in the survival of motor neuron (SMN) 1 gene. Loss or reduction of the SMN protein results in progressive muscle weakness. Whether this protein deficiency also ...

    Authors: Lucas Mix, Olivia Schreiber-Katz, Claudia D. Wurster, Zeljko Uzelac, Sophia Platen, Christina Gipperich, Gresa Ranxha, Gary Wieselmann, Alma Osmanovic, Albert C. Ludolph, Susanne Petri and Dorothée Lulé

    Citation: Orphanet Journal of Rare Diseases 2021 16:10

    Content type: Research

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  17. Unbiased in silico approaches applied to genome-wide data prioritized putative functional gene variants associating with treatment-resistant ophthalmoplegic myasthenia gravis (OP-MG). Although altered expressi...

    Authors: Tarin A. Europa, Melissa Nel and Jeannine M. Heckmann

    Citation: Orphanet Journal of Rare Diseases 2020 15:346

    Content type: Research

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  18. Laing distal myopathy is a rare autosomal dominant inherited distal myopathy caused by mutations of the MYH7 gene affecting mainly the rod region. We described the clinical features, muscle MRI and pathological c...

    Authors: Meng Yu, Ying Zhu, Yuanyuan Lu, He Lv, Wei Zhang, Yun Yuan and Zhaoxia Wang

    Citation: Orphanet Journal of Rare Diseases 2020 15:344

    Content type: Research

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  19. Phelan–McDermid syndrome (PMS) or 22q13 deletion syndrome is a rare developmental disorder characterized by hypotonia, developmental delay (DD), intellectual disability (ID), autism spectrum disorder (ASD) and...

    Authors: Na Xu, Hui Lv, Tingting Yang, Xiujuan Du, Yu Sun, Bing Xiao, Yanjie Fan, Xiaomei Luo, Yongkun Zhan, Lili Wang, Fei Li and Yongguo Yu

    Citation: Orphanet Journal of Rare Diseases 2020 15:335

    Content type: Research

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  20. Viliuisk encephalomyelitis (VE) is a rare endemic neurodegenerative disease occurring in the Yakut population of Northeastern Siberia. The main clinical features of VE are spasticity, dysarthria, dementia, cen...

    Authors: Veronika Kuznetsova, Alexander Tyakht, Lyudmila Akhmadishina, Vera Odintsova, Natalia Klimenko, Elena Kostryukova, Maria Vakhitova, Tatyana Grigoryeva, Sergey Malanin, Vsevolod Vladimirtsev, Raisa Nikitina, Viktor Volok, Vladimir Osakovskiy, Tatiana Sivtseva, Fyodor Platonov, Dmitry Alexeev…

    Citation: Orphanet Journal of Rare Diseases 2020 15:327

    Content type: Research

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  21. The diagnosis of rare diseases poses a particular challenge to clinicians. This study analyzes whether patients’ pain drawings (PDs) help in the differentiation of two pain-associated rare diseases, Ehlers-Dan...

    Authors: Larissa Wester, Martin Mücke, Tim Theodor Albert Bender, Julia Sellin, Frank Klawonn, Rupert Conrad and Natasza Szczypien

    Citation: Orphanet Journal of Rare Diseases 2020 15:323

    Content type: Research

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  22. Congenital Central Hypoventilation Syndrome (CCHS) is characterized by central hypoventilation due to abnormal autonomic control of breathing and global dysautonomia. Patients harbour heterozygous PHOX-2B gene mu...

    Authors: Ha Trang, Pauline Bourgeois and Fawzia Cheliout-Heraut

    Citation: Orphanet Journal of Rare Diseases 2020 15:322

    Content type: Research

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  23. Niemann-Pick type C (NPC) is an autosomal recessive and congenital neurological disorder characterized by the accumulation of cholesterol and glycosphingolipids. Symptoms include hepatosplenomegaly, vertical s...

    Authors: A. Imanishi, T. Kawazoe, Y. Hamada, T. Kumagai, K. Tsutsui, N. Sakai, K. Eto, A. Noguchi, T. Shimizu, T. Takahashi, G. Han, K. Mishima, T. Kanbayashi and H. Kondo

    Citation: Orphanet Journal of Rare Diseases 2020 15:269

    Content type: Research

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  24. Dominant mutations in valosin-containing protein (VCP) gene cause an adult onset inclusion body myopathy, Paget’s disease of bone, and frontotemporal dementia also termed multisystem proteinopathy (MSP). The g...

    Authors: Chiseko Ikenaga, Andrew R. Findlay, Michelle Seiffert, Allison Peck, Nathan Peck, Nicholas E. Johnson, Jeffrey M. Statland and Conrad C. Weihl

    Citation: Orphanet Journal of Rare Diseases 2020 15:267

    Content type: Research

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  25. We aim to elucidate the disease impact by accounting the prevalence, survival rate, genetics, mTOR inhibitor use and direct costs of tuberous sclerosis complex (TSC) in our local setting. TSC patients with doc...

    Authors: William Ching-Yuen Chu, Lorraine Lok-Wing Chiang, Dorothy Chi-Ching Chan, Wilfred Hing-Sang Wong and Godfrey Chi-Fung Chan

    Citation: Orphanet Journal of Rare Diseases 2020 15:264

    Content type: Research

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  26. GNE myopathy is an autosomal recessive adult-onset distal myopathy. While a few case reports have described the progression of GNE myopathy during pregnancy, to our knowledge, none have examined disease progre...

    Authors: Wakako Yoshioka, Naoyuki Miyasaka, Ryo Okubo, Reiko Shimizu, Yuji Takahashi, Yuriko Oda, Ichizo Nishino, Harumasa Nakamura and Madoka Mori-Yoshimura

    Citation: Orphanet Journal of Rare Diseases 2020 15:245

    Content type: Research

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  27. Fabry disease (FD) is a systemic X-linked lysosomal disorder. A ‘peripheral nerve variant’ of FD has been hypothesized in subjects with neuropathy, without the early manifestations of the classic phenotype. A ...

    Authors: Eugenia Rota, Marina Grandis, Alessia Di Sapio, Elisabetta Ghiglione, Pietro Fiorentino, Alessandra Repetto, Claudia Giliberto, Chiara Gemelli, Nicola Morelli, Angelo Schenone and Dario Cocito

    Citation: Orphanet Journal of Rare Diseases 2020 15:216

    Content type: Letter to the Editor

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  28. Neurofibromatosis 1 (NF1) is one of the most common autosomal dominant genetic disorders with a birth incidence as high as 1:2000. It is caused by mutations in the NF1 gene on chromosome 17 which encodes neurofib...

    Authors: Christina Bergqvist, François Hemery, Salah Ferkal and Pierre Wolkenstein

    Citation: Orphanet Journal of Rare Diseases 2020 15:186

    Content type: Letter to the Editor

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  29. Autoimmune necrotizing myopathy with anti-signal recognition particle antibodies (ANM-SRP) is regarded as refractory myositis, whereby some patients respond poorly to conventional immunosuppression and require...

    Authors: Yawen Zhao, Wei Zhang, Yilin Liu, Zhaoxia Wang and Yun Yuan

    Citation: Orphanet Journal of Rare Diseases 2020 15:181

    Content type: Research

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  30. Patisiran, an RNA interference therapeutic, has demonstrated robust reduction of wild-type and mutant transthyretin protein and was able to improve polyneuropathy and quality of life following 18 months of tre...

    Authors: Teresa Coelho, David Adams, Isabel Conceição, Márcia Waddington-Cruz, Hartmut H. Schmidt, Juan Buades, Josep Campistol, John L. Berk, Michael Polydefkis, Jing Jing Wang, Jihong Chen, Marianne T. Sweetser, Jared Gollob and Ole B. Suhr

    Citation: Orphanet Journal of Rare Diseases 2020 15:179

    Content type: Research

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  31. Urinary dysfunction is one of the main features of human T-cell leukemia virus type 1-associated myelopathy/tropical spastic paraparesis (HAM/TSP). However, a comprehensive assessment of the severity is diffic...

    Authors: Natsuko Yamakawa, Naoko Yagishita, Tomohiro Matsuo, Junji Yamauchi, Takahiko Ueno, Eisuke Inoue, Ayako Takata, Misako Nagasaka, Natsumi Araya, Daisuke Hasegawa, Ariella Coler-Reilly, Shuntaro Tsutsumi, Tomoo Sato, Abelardo Araujo, Jorge Casseb, Eduardo Gotuzzo…

    Citation: Orphanet Journal of Rare Diseases 2020 15:175

    Content type: Research

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  32. Phelan-McDermid Syndrome (PMS) is a rare neurodevelopmental disorder characterized by global developmental delay, autism spectrum disorder, and numerous systemic complications including seizures, gastrointesti...

    Authors: Kimberly Goodspeed, Geraldine Bliss and Diane Linnehan

    Citation: Orphanet Journal of Rare Diseases 2020 15:152

    Content type: Research

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  33. Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder. Consequently, patients undergo a multidisciplinary treatment that often requires intensive use of medical resources. This study provid...

    Authors: Erik Schönfelder, Alma Osmanovic, Lars Hendrik Müschen, Susanne Petri and Olivia Schreiber-Katz

    Citation: Orphanet Journal of Rare Diseases 2020 15:149

    Content type: Research

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  34. Glycosylphosphatidylinositol biosynthesis defects cause rare genetic disorders characterised by developmental delay/intellectual disability, seizures, dysmorphic features, and diverse congenital anomalies asso...

    Authors: Tenghui Wu, Fei Yin, Shiqi Guang, Fang He, Li Yang and Jing Peng

    Citation: Orphanet Journal of Rare Diseases 2020 15:129

    Content type: Review

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  35. Pathogenic variations in the gene encoding the skeletal muscle ryanodine receptor (RyR1) are associated with malignant hyperthermia (MH) susceptibility, a life-threatening hypermetabolic condition and RYR1-relate...

    Authors: Tokunbor A. Lawal, Emily S. Wires, Nancy L. Terry, James J. Dowling and Joshua J. Todd

    Citation: Orphanet Journal of Rare Diseases 2020 15:113

    Content type: Review

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  36. Infantile neuroaxonal dystrophy (INAD) is a rapidly progressive neurodegenerative disorder of early onset causing premature death. It results from biallelic pathogenic variants in PLA2G6, which encodes a calcium-...

    Authors: Fadie D. Altuame, Gretchen Foskett, Paldeep S. Atwal, Sarah Endemann, Mark Midei, Peter Milner, Mustafa A. Salih, Muddathir Hamad, Mohammad Al-Muhaizea, Mais Hashem and Fowzan S. Alkuraya

    Citation: Orphanet Journal of Rare Diseases 2020 15:109

    Content type: Research

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  37. Niemann-Pick disease Type C (NP-C) is a rare, progressive neurodegenerative disorder characterized by progressive neurodegeneration and premature death. We report data at closure of the NPC Registry that descr...

    Authors: Marc C. Patterson, Eugen Mengel, Marie T. Vanier, Patrick Moneuse, Daniel Rosenberg and Mercedes Pineda

    Citation: Orphanet Journal of Rare Diseases 2020 15:104

    Content type: Research

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  38. Kennedy’s disease (KD), also known as spinal and bulbar muscular atrophy (SBMA), is a rare, adult-onset, X-linked recessive neuromuscular disease caused by CAG expansions in exon 1 of the androgen receptor gen...

    Authors: Pierre-François Pradat, Emilien Bernard, Philippe Corcia, Philippe Couratier, Christel Jublanc, Giorgia Querin, Capucine Morélot Panzini, François Salachas, Christophe Vial, Karim Wahbi, Peter Bede and Claude Desnuelle

    Citation: Orphanet Journal of Rare Diseases 2020 15:90

    Content type: Research

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  39. Late-onset Pompe disease (LOPD) is a rare, hereditary, progressive disorder that is usually characterized by limb-girdle muscle weakness and/or respiratory insufficiency. LOPD is caused by mutations in the aci...

    Authors: P. Vanherpe, S. Fieuws, A. D’Hondt, C. Bleyenheuft, P. Demaerel, J. De Bleecker, P. Van den Bergh, J. Baets, G. Remiche, K. Verhoeven, S. Delstanche, M. Toussaint, B. Buyse, P. Van Damme, C. E. Depuydt and K. G. Claeys

    Citation: Orphanet Journal of Rare Diseases 2020 15:83

    Content type: Research

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  40. To summarize and extend the phenotypic characterization of Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome, and to discuss genotype-phenotype correlations.

    Authors: Xianru Jiao, Jiao Xue, Pan Gong, Xinhua Bao, Ye Wu, Yuehua Zhang, Yuwu Jiang and Zhixian Yang

    Citation: Orphanet Journal of Rare Diseases 2020 15:78

    Content type: Research

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  41. Hereditary Transthyretin Amyloidosis Polyneuropathy is a rare life-threatening neurologic disease that imposes considerable mortality and it is associated with progressive related disabilities. In this study, ...

    Authors: Mónica Inês, Teresa Coelho, Isabel Conceição, Lara Ferreira, Mamede de Carvalho and João Costa

    Citation: Orphanet Journal of Rare Diseases 2020 15:67

    Content type: Research

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  42. Hereditary spastic paraplegia (HSP) is a group of inherited disorders characterized by progressive spastic paresis of the lower limbs. Treatment is often focused on reducing spasticity and its physical consequ...

    Authors: Bas J. H. van Lith, Hans C. J. W. Kerstens, Laura A. C. van den Bemd, Maria W. G. Nijhuis-van der Sanden, Vivian Weerdesteyn, Rob J. E. M. Smeets, Klemens Fheodoroff, Bart P. C. van de Warrenburg and Alexander C. H. Geurts

    Citation: Orphanet Journal of Rare Diseases 2020 15:64

    Content type: Research

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  43. Winning entry to the Student Voice 2019. The article focuses on a personal encounter that I had as a medical student when I was sent off to ‘study’ a patient with a rare disease who had been admitted to hospital.

    Authors: Anna-Lucia Koerling

    Citation: Orphanet Journal of Rare Diseases 2020 15:50

    Content type: Letter to the Editor

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  44. This review will summarize current knowledge on the burden of illness (BOI) in tuberous sclerosis complex (TSC), a multisystem genetic disorder manifesting with hamartomas throughout the body, including mainly...

    Authors: Johann Philipp Zöllner, David Neal Franz, Christoph Hertzberg, Rima Nabbout, Felix Rosenow, Matthias Sauter, Susanne Schubert-Bast, Adelheid Wiemer-Kruel and Adam Strzelczyk

    Citation: Orphanet Journal of Rare Diseases 2020 15:23

    Content type: Review

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  45. Prader-Willi syndrome (PWS) is a rare and complex neurodevelopmental disorder of genetic origin. It manifests itself in endocrine and cognitive problems, including highly pronounced hyperphagia and severe obes...

    Authors: Kuzma Strenilkov, Jimmy Debladis, Juliette Salles, Marion Valette, Carine Mantoulan, Denise Thuilleaux, Virginie Laurier, Catherine Molinas, Pascal Barone and Maïthé Tauber

    Citation: Orphanet Journal of Rare Diseases 2020 15:22

    Content type: Research

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  46. Myasthenia gravis is a rare autoimmune neuromuscular disorder. The disorder requires long-term use of expensive medication to control clinical symptoms. This study analyzed the change in trends of total medica...

    Authors: Tao-yu Lin, Xiao-yan Zhang, Peng-qian Fang and Rui Min

    Citation: Orphanet Journal of Rare Diseases 2020 15:13

    Content type: Research

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  48. 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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  49. 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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  50. 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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Orphanet Journal of Rare Diseases

ISSN: 1750-1172