Articles

X-linked disorders with cerebellar dysgenesis

X-linked disorders with cerebellar dysgenesis (XLCD) are a genetically heterogeneous and clinically variable group of disorders in which the hallmark is a cerebellar defect (hypoplasia, atrophy or dysplasia) v...

Authors: Ginevra Zanni and Enrico S Bertini

Congenitally corrected transposition

Congenitally corrected transposition is a rare cardiac malformation characterized by the combination of discordant atrioventricular and ventriculo-arterial connections, usually accompanied by other cardiovascu...

Authors: Gonzalo A Wallis, Diane Debich-Spicer and Robert H Anderson

Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis

Usher syndrome (USH) combines sensorineural deafness with blindness. It is inherited in an autosomal recessive mode. Early diagnosis is critical for adapted educational and patient management choices, and for ...

Authors: Crystel Bonnet, M'hamed Grati, Sandrine Marlin, Jacqueline Levilliers, Jean-Pierre Hardelin, Marine Parodi, Magali Niasme-Grare, Diana Zelenika, Marc Délépine, Delphine Feldmann, Laurence Jonard, Aziz El-Amraoui, Dominique Weil, Bruno Delobel, Christophe Vincent, Hélène Dollfus…

Clinical and animal research findings in pycnodysostosis and gene mutations of cathepsin K from 1996 to 2011

Cathepsin K (CTSK) is a member of the papain-like cysteine protease family. Mutations in the CTSK gene cause a rare autosomal recessive bone disorder called pycnodysostosis (OMIM 265800). In order to follow the a...

Authors: Yang Xue, Tao Cai, Songtao Shi, Weiguang Wang, Yanli Zhang, Tianqiu Mao and Xiaohong Duan

MR spectroscopy-based brain metabolite profiling in propionic acidaemia: metabolic changes in the basal ganglia during acute decompensation and effect of liver transplantation

Propionic acidaemia (PA) results from deficiency of Propionyl CoA carboxylase, the commonest form presenting in the neonatal period. Despite best current management, PA is associated with severe neurological s...

Authors: James E Davison, Nigel P Davies, Martin Wilson, Yu Sun, Anupam Chakrapani, Patrick J McKiernan, John H Walter, P Gissen and Andrew C Peet

Mortality Associated with Neurofibromatosis 1: A Cohort Study of 1895 Patients in 1980-2006 in France

Neurofibromatosis 1 (NF1), a common autosomal dominant disorder, was shown in one study to be associated with a 15-year decrease in life expectancy. However, data on mortality in NF1 are limited. Our aim was t...

Authors: Tu Anh Duong, Emilie Sbidian, Laurence Valeyrie-Allanore, Cédric Vialette, Salah Ferkal, Smaïl Hadj-Rabia, Christophe Glorion, Stanislas Lyonnet, Michel Zerah, Isabelle Kemlin, Diana Rodriguez, Sylvie Bastuji-Garin and Pierre Wolkenstein

Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome

Complex chromosome rearrangements are constitutional structural rearrangements involving three or more chromosomes or having more than two breakpoints. These are rarely seen in the general population but their...

Authors: Maria Cristina Roberti, Cecilia Surace, Maria Cristina Digilio, Gemma D'Elia, Pietro Sirleto, Rossella Capolino, Antonietta Lombardo, Anna Cristina Tomaiuolo, Stefano Petrocchi and Adriano Angioni

Limitations of drug registries to evaluate orphan medicinal products for the treatment of lysosomal storage disorders

Orphan drugs are often approved under exceptional circumstances, requiring submission of additional data on safety and effectiveness through registries. These registries are mainly focused on one drug only and...

Authors: Carla EM Hollak, Johannes MFG Aerts, Ségolène Aymé and Jeremy Manuel

Hughes-Stovin Syndrome

Hughes-Stovin Syndrome (HSS) is a very rare clinical disorder characterized by thrombophlebitis and multiple pulmonary and/or bronchial aneurysms. Less than 40 published cases of HSS have been described in Eng...

Authors: Umair Khalid and Taimur Saleem

Efficacy of alpha1-antitrypsin augmentation therapy in conditions other than pulmonary emphysema

Up to now alpha 1-antitrypsin (AAT) augmentation therapy has been approved only for commercial use in selected adults with severe AAT deficiency-related pulmonary emphysema (i.e. PI*ZZ genotypes as well as com...

Authors: Ignacio Blanco, Beatriz Lara and Frederick de Serres

Cholestasis in patients with Cockayne syndrome and suggested modified criteria for clinical diagnosis

Cockayne syndrome is a rare autosomal recessive neurodegenerative disease characterized by low-to-normal birth weight; growth failure; brain dysmyelination with calcium deposits, cutaneous photosensitivity; pi...

Authors: Tawhida Y Abdel Ghaffar, Ezzat S Elsobky and Solaf M Elsayed

Microarray based analysis of an inherited terminal 3p26.3 deletion, containing only the CHL1 gene, from a normal father to his two affected children

terminal deletions of the distal portion of the short arm of chromosome 3 cause a rare contiguous gene disorder characterized by growth retardation, developmental delay, mental retardation, dysmorphisms, micro...

Authors: Cristina Cuoco, Patrizia Ronchetto, Stefania Gimelli, Frédérique Béna, Maria Teresa Divizia, Margherita Lerone, Marisol Mirabelli-Badenier, Monica Mascaretti and Giorgio Gimelli

Mortality associated with neurofibromatosis type 1: A study based on Italian death certificates (1995-2006)

Persons affected by neurofibromatosis type 1 (NF1) have a decreased survival, yet information on NF1-associated mortality is limited.

Authors: Maria Masocco, Yllka Kodra, Monica Vichi, Susanna Conti, Mark Kanieff, Monica Pace, Luisa Frova and Domenica Taruscio

Lack of a synergistic effect of a non-viral ALS gene therapy based on BDNF and a TTC fusion molecule

Amyotrophic lateral sclerosis (ALS) is one of the most devastating neurodegenerative diseases. Neurotrophic factors have been widely tested to counteract neurodegenerative conditions, despite their unspecific ...

Authors: Ana C Calvo, María Moreno-Igoa, Renzo Mancuso, Raquel Manzano, Sara Oliván, María J Muñoz, Clara Penas, Pilar Zaragoza, Xavier Navarro and Rosario Osta

Utero-vaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and the upper part of the vagina in women showing normal development of secondary sexual characteristics and ...

Authors: Karine Morcel, Tanguy Watrin, Laurent Pasquier, Lucie Rochard, Cédric Le Caignec, Christèle Dubourg, Philippe Loget, Bernard-Jean Paniel, Sylvie Odent, Véronique David, Isabelle Pellerin, Claude Bendavid and Daniel Guerrier

Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene

To expand the spectrum of genetic causes of autosomal recessive cerebellar ataxia (ARCA).

Authors: Caroline Sevin, Sacha Ferdinandusse, Hans R Waterham, Ronald J Wanders and Patrick Aubourg

Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case report

It is not unusual for patients with "rare" conditions, such as skeletal dysplasias, to remain undiagnosed until adulthood. In such cases, a pregnancy may unexpectedly reveal hidden problems and special needs. ...

Authors: Maria Francesca Bedeschi, Vera Bianchi, Barbara Gentilin, Lorenzo Colombo, Federica Natacci, Sabrina Giglio, Elena Andreucci, Laura Trespidi, Barbara Acaia, Andrea Superti Furga and Faustina Lalatta

Erratum To:Clinical and genetic characterization of chanarin-dorfman syndrome patients: first report of large deletions in the ABHD5 gene

Authors: Chiara Redaelli, Rosalind A Coleman, Laura Moro, Amalia Sertedaki, Talia Kakourou, Solaf Mohamed Elsayed, Daniele Prati, Agostino Colli, Donatella Mela, Roberto Colombo and Daniela Tavian

Lidocaine for systemic sclerosis: a double-blind randomized clinical trial

Systemic sclerosis (scleroderma; SSc) is an orphan disease with the highest case-specific mortality of any connective-tissue disease. Excessive collagen deposit in affected tissues is a key for the disease's p...

Authors: Rachel Riera, Luís EC Andrade, Alexandre WS Souza, Cristiane Kayser, Edison T Yanagita and Virgínia FM Trevisani

Sensory and motor neuronopathy in a patient with the A382P TDP-43 mutation

Patients with TARDBP mutations have so far been classified as ALS, sometimes with frontal lobe dysfunction. A 66-year-old patient progressively developed a severe sensory disorder, followed by a motor disorder, w...

Authors: Jean-Philippe Camdessanché, Véronique V Belzil, Guillemette Jousserand, Guy A Rouleau, Christelle Créac'h, Philippe Convers and Jean-Christophe Antoine

Respective implications of glutamate decarboxylase antibodies in stiff person syndrome and cerebellar ataxia

To investigate whether Stiff-person syndrome (SPS) and cerebellar ataxia (CA) are associated with distinct GAD65-Ab epitope specificities and neuronal effects.

Authors: Mario U Manto, Christiane S Hampe, Véronique Rogemond and Jérome Honnorat

Genome-wide analysis of Ollier disease: Is it all in the genes?

Ollier disease is a rare, non-hereditary disorder which is characterized by the presence of multiple enchondromas (ECs), benign cartilaginous neoplasms arising within the medulla of the bone, with an asymmetri...

Authors: Twinkal C Pansuriya, Jan Oosting, Tibor Krenács, Antonie HM Taminiau, Suzan HM Verdegaal, Luca Sangiorgi, Raf Sciot, Pancras CW Hogendoorn, Karoly Szuhai and Judith VMG Bovée

Molecular analysis and intestinal expression of SAR1 genes and proteins in Anderson's disease (Chylomicron retention disease)

Anderson's disease (AD) or chylomicron retention disease (CMRD) is a very rare hereditary lipid malabsorption syndrome. In order to discover novel mutations in the SAR1B gene and to evaluate the expression, as co...

Authors: Amandine Georges, Jessica Bonneau, Dominique Bonnefont-Rousselot, Jacqueline Champigneulle, Jean P Rabès, Marianne Abifadel, Thomas Aparicio, Jean C Guenedet, Eric Bruckert, Catherine Boileau, Alain Morali, Mathilde Varret, Lawrence P Aggerbeck and Marie E Samson-Bouma

Huntington's disease: a clinical review

Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia. Prevalence in the...

Authors: Raymund AC Roos

Toxic epidermal necrolysis and Stevens-Johnson syndrome

Toxic epidermal necrolysis (TEN) and Stevens Johnson Syndrome (SJS) are severe adverse cutaneous drug reactions that predominantly involve the skin and mucous membranes. Both are rare, with TEN and SJS affecti...

Authors: Thomas Harr and Lars E French

The Schnitzler syndrome

The Schnitzler syndrome is a rare and underdiagnosed entity which is considered today as being a paradigm of an acquired/late onset auto-inflammatory disease. It associates a chronic urticarial skin rash, corr...

Authors: Dan Lipsker

Granulomatous skin lesions complicating Varicella infection in a patient with Rothmund-Thomson syndrome and immune deficiency: case report

Rothmund-Thomson syndrome (RTS)(OMIM 268400) is a rare autosomal recessive genodermatosis characterized by poikiloderma, small stature, skeletal and dental abnormalities, cataract and an increased risk of canc...

Authors: Lien De Somer, Carine Wouters, Marie-Anne Morren, Rita De Vos, Joost Van Den Oord, Koenraad Devriendt and Isabelle Meyts

Prediction of the responsiveness to pharmacological chaperones: lysosomal human alpha-galactosidase, a case of study

The pharmacological chaperones therapy is a promising approach to cure genetic diseases. It relies on substrate competitors used at sub-inhibitory concentration which can be administered orally, reach difficul...

Authors: Giuseppina Andreotti, Mario R Guarracino, Marco Cammisa, Antonella Correra and Maria Vittoria Cubellis

Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation

Centronuclear myopathies (CNM) describe a group of rare muscle diseases typically presenting an abnormal positioning of nuclei in muscle fibers. To date, three genes are known to be associated to a classical C...

Authors: Johann Böhm, Uluç Yiş, Ragıp Ortaç, Handan Çakmakçı, Semra Hız Kurul, Eray Dirik and Jocelyn Laporte

The diagnosis of inherited metabolic diseases by microarray gene expression profiling

Inherited metabolic diseases (IMDs) comprise a diverse group of generally progressive genetic metabolic disorders of variable clinical presentations and severity. We have undertaken a study using microarray ge...

Authors: Monica Arenas Hernandez, Reiner Schulz, Tracy Chaplin, Bryan D Young, David Perrett, Michael P Champion, Jan-Willem Taanman, Anthony Fensom and Anthony M Marinaki

Clinical and genetic characterization of chanarin-dorfman syndrome patients: first report of large deletions in the ABHD5 gene

Chanarin-Dorfman syndrome (CDS) is a rare autosomal recessive disorder characterized by nonbullous congenital ichthyosiform erythroderma (NCIE) and an intracellular accumulation of triacylglycerol (TG) droplet...

Authors: Chiara Redaelli, Rosalind A Coleman, Laura Moro, Catherine Dacou-Voutetakis, Solaf Mohamed Elsayed, Daniele Prati, Agostino Colli, Donatella Mela, Roberto Colombo and Daniela Tavian

In Lysinuric Protein Intolerance system y⁺L activity is defective in monocytes and in GM-CSF-differentiated macrophages

In the recessive aminoaciduria Lysinuric Protein Intolerance (LPI), mutations of SLC7A7/y+LAT1 impair system y⁺L transport activity for cationic amino acids. A severe complication of LPI is a form of Pulmonary Al...

Authors: Amelia Barilli, Bianca Maria Rotoli, Rossana Visigalli, Ovidio Bussolati, Gian C Gazzola, Zamir Kadija, Giuseppe Rodi, Francesca Mariani, Maria Lorena Ruzza, Maurizio Luisetti and Valeria Dall'Asta

In vivo effects of antibodies from patients with anti-NMDA receptor encephalitis: further evidence of synaptic glutamatergic dysfunction

A severe encephalitis that associates with auto-antibodies to the NR1 subunit of the NMDA receptor (NMDA-R) was recently reported. Patients' antibodies cause a decrease of the density of NMDA-R and synaptic me...

Authors: Mario Manto, Josep Dalmau, Adrien Didelot, Véronique Rogemond and Jérôme Honnorat

Fabry disease

Fabry disease (FD) is a progressive, X-linked inherited disorder of glycosphingolipid metabolism due to deficient or absent lysosomal α-galactosidase A activity. FD is pan-ethnic and the reported annual incidence...

Authors: Dominique P Germain

Wolcott-Rallison syndrome

Wolcott-Rallison syndrome (WRS) is a rare autosomal recessive disease, characterized by neonatal/early-onset non-autoimmune insulin-requiring diabetes associated with skeletal dysplasia and growth retardation....

Authors: Cécile Julier and Marc Nicolino

APTIC: a social network to improve the quality of life of members of patients' associations

Authors: Manuel Armayones, Eulàlia Hernández-Encuentra, Beni Gómez-Zúñiga, Noemí Guillamon, Gerardo Ontiveros, Ana Bosque and Begonya Nafría

New functionalities in Orphanet for orphan drugs, R&D and marketing authorisations to better serve the rare diseases community

Authors: Virginie Hivert, Natalia Martin, Marc Hanauer and Ségolène Aymé

Psychological aspects of living with rare disease: development of psychological skills of rare disease patients. How to improve patients’ quality of life by developing psychological skills necessary to cope with the disease

Authors: Yolanta Wierzba, Joanna Jaglowska and Emilia G Suszka

Classification of rare diseases: a worldwide effort to contribute to the International Classification of Diseases

Authors: Ana Rath, Ségolène Aymé and Bertrand Bellet

Wilson France: a national database for Wilson’s disease

Authors: Jean-Marc Trocello

Cross-border genetic testing

Authors: David Barton

EU Clinical trial regulation in the environment of rare diseases: time for a change

Authors: Martine Zimmermann

Health technology assessment: oncology drugs with orphan designation as an example

Authors: Claudia Wild

Aging among persons with invisible disorders: the importance of patient organisations

Authors: Vigdis Hegna Myrvang and Kirsten Thorsen

The European research area network – E-Rare

Authors: Sophie Koutouzov

Abilities of development support in children with genetic syndromes. Experiences from annual integrational meetings

Authors: Alina T Midro, Olga Haus, Krystyna Kobel-Buys, Jolanta Wierzba and Stanisław Zajączek

Advancing diagnosis, care and treatment for people with neuromuscular diseases around the world: a network of excellence to catalyse research infrastructure globally

Authors: Kate Bushby

Very rare disorders - organisation of care

Authors: Raoul CM Hennekam

Living with OI = Osteogenesis imperfecta = brittle bone disease

Authors: Ute Wallentin

State of the art of services in Europe: where are the problems?

Authors: Ségolène Aymé