Series 04 March 2016

Rare diseases

Collectively, rare diseases account for a substantial proportion of the worldwide burden of neurological disease, despite their individual low prevalence. The articles in this series highlight the challenges of studying and treating rare neurological diseases, emphasizing the importance of international and multidisciplinary collaboration to foster interactions between patients, clinicians, researchers and advocacy groups.

Content

Hereditary transthyretin amyloidosis: a model of medical progress for a fatal disease

In this Review, Adams et al. discuss the latest insights into various aspects of hereditary transthyretin amyloidosis and its management, including its epidemiology, pathogenesis and the latest success with RNA interference and antisense oligonucleotide therapies.
- David Adams
- Haruki Koike
- Teresa Coelho
Review Article17 Jun 2019 Nature Reviews Neurology
Neurological manifestations of organic acidurias

Organic acidurias (OADs) are inherited neurometabolic diseases usually caused by deficiencies in enzymes involved in amino acid catabolism. Wajner reviews the main features of the OADs, focusing particularly on the cerebral manifestations, and highlights recent advances regarding pathophysiology and treatment.
- Moacir Wajner
Review Article26 Mar 2019 Nature Reviews Neurology
Therapeutic landscape for Batten disease: current treatments and future prospects

In the past few years, substantial progress has been made towards effective treatment of Batten disease, a family of paediatric neurodegenerative lysosomal storage disorders. In this Review, the authors discuss new therapies for Batten disease, including cerliponase alfa, the first globally approved agent, and considers promising new therapeutic avenues for future treatments.
- Tyler B. Johnson
- Jacob T. Cain
- Jill M. Weimer
Review Article19 Feb 2019 Nature Reviews Neurology
Lafora disease — from pathogenesis to treatment strategies

Lafora disease is an autosomal recessive, progressive myoclonus epilepsy caused by loss of function of laforin or malin, leading to impaired glycogen metabolism. The authors review the clinical and molecular features of Lafora disease and discuss current and emerging treatment options.
- Felix Nitschke
- Saija J. Ahonen
- Berge A. Minassian
Review Article24 Aug 2018 Nature Reviews Neurology
Adulthood leukodystrophies

The leukodystrophies are a group of inherited white matter disorders with diverse genetic backgrounds and substantial phenotypic variability. This Review provides a comprehensive overview of the leukodystrophies that present in adulthood, focusing on conditions for which treatments are available.
- Wolfgang Köhler
- Julian Curiel
- Adeline Vanderver
Review Article5 Jan 2018 Nature Reviews Neurology
Multiple system atrophy: insights into a rare and debilitating movement disorder

In this Review, Krismer and Wenning discuss the risk factors for and the clinical presentation and neuropathology of multiple system atrophy (MSA) — a devastating and fatal neurodegenerative disorder. They provide an overview of ongoing trials and international efforts to improve care in patients with MSA.
- Florian Krismer
- Gregor K. Wenning
Review Article17 Mar 2017 Nature Reviews Neurology
Clinical and biological progress over 50 years in Rett syndrome

Rett syndrome (RTT) is a rare, progressive neurodevelopmental disorder that almost exclusively affects girls, and is caused by a mutation in theMECP2gene. The authors highlight major milestones in RTT over the past 50 years, and acknowledge the international collaborations that are driving this research programme.
- Helen Leonard
- Stuart Cobb
- Jenny Downs
Review Article9 Dec 2016 Nature Reviews Neurology
Angelman syndrome — insights into a rare neurogenetic disorder

Angelman syndrome is a severe neurodevelopmental disorder, the characteristics of which include severe learning disability, epilepsy, ataxia, and a happy, sociable disposition. The authors review past and recent developments in Angelman syndrome research, highlighting the role of multicentre and international collaboration in addressing this rare condition.
- Karin Buiting
- Charles Williams
- Bernhard Horsthemke
Review Article12 Sep 2016 Nature Reviews Neurology
Skeletal muscle disorders of glycogenolysis and glycolysis

Skeletal muscle disorders of glycogenolysis and glycolysis account for most of the conditions collectively termed glycogen storage diseases. Godfrey and Quinlivan outline the distinguishing features of these disorders, and they describe a large European registry, EUROMAC, that has been established to pool and transfer knowledge regarding McArdle disease and other rare disorders of carbohydrate metabolism.
- Richard Godfrey
- Ros Quinlivan
Review Article27 May 2016 Nature Reviews Neurology
Limb-girdle muscular dystrophies — international collaborations for translational research

The limb-girdle muscular dystrophies (LGMDs) comprise more than 30 genetically defined neuromuscular diseases that share the determining features of weakness and wasting of the pelvic and shoulder girdle muscles. Next-generation sequencing (NGS) technologies are continuing to expand the range of genes and phenotypes associated with the LGMDs. In this article, Thompson and Straub review the international collaborations that are addressing translational research issues in the LGMDs, and the lessons learned from large-scale NGS programmes.
- Rachel Thompson
- Volker Straub
Review Article1 Apr 2016 Nature Reviews Neurology
Rare neurological channelopathies — networks to study patients, pathogenesis and treatment

Rare neurological diseases require widely distributed networks of centres, investigators and patients to foster multidisciplinary investigations and recruit sufficient numbers of patients for research studies and clinical trials. In this article, Jen and colleagues highlight the role of two networks, the Consortium for Clinical Investigations of Neurological Channelopathies (CINCH) and the Clinical Research Consortium for Studies of Cerebellar Ataxias (CRC-SCA), in bringing together the various stakeholders in patient-oriented research into rare neurological channelopathies.
- Joanna C. Jen
- Tetsuo Ashizawa
- Michael F. Waters
Review Article4 Mar 2016 Nature Reviews Neurology

Rare diseases

Content

Hereditary transthyretin amyloidosis: a model of medical progress for a fatal disease

Neurological manifestations of organic acidurias

Therapeutic landscape for Batten disease: current treatments and future prospects

Lafora disease — from pathogenesis to treatment strategies

Adulthood leukodystrophies

Multiple system atrophy: insights into a rare and debilitating movement disorder

Clinical and biological progress over 50 years in Rett syndrome

Angelman syndrome — insights into a rare neurogenetic disorder

Skeletal muscle disorders of glycogenolysis and glycolysis

Limb-girdle muscular dystrophies — international collaborations for translational research

Rare neurological channelopathies — networks to study patients, pathogenesis and treatment

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