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Rare neurological diseases

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  1. 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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  2. 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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  3. 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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  4. 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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  5. 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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  6. 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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  7. 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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  8. 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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  9. 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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  10. 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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  11. 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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  12. 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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  13. 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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  14. 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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  15. 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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  16. 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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  18. 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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  19. 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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  20. 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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  21. 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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  22. 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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  23. 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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  24. 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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  26. 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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  27. 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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  28. 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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  29. 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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  30. 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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  31. 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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  32. 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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  33. 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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  34. 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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  35. 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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  36. 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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  37. 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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  38. 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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  39. 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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  40. 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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  41. 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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  42. 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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  43. 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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  44. 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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  45. 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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  46. 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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  47. 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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  49. 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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  50. 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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Orphanet Journal of Rare Diseases

ISSN: 1750-1172