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The congenital myopathies are a group of early-onset neuromuscular disorders characterized by muscle weakness and distinctive structural abnormalities in skeletal muscle. In this Review, the authors summarize the genetic, clinical and pathological features of the main congenital myopathies and discuss current and future approaches to treatment and management.
Here, Sweeney and colleagues focus on advanced neuroimaging evidence of blood–brain barrier (BBB) breakdown in several neurodegenerative disorders. The role of the ageing cerebrovascular system in neurodegeneration and dementia and the implications of BBB dysfunction for treatment and drug delivery are also discussed.
Alzheimer disease (AD) and related dementias share numerous mechanistic and epidemiological similarities with type 2 diabetes mellitus (T2DM). However, whether these associations result from synergistic interactions between the disorders is unclear. This Review summarizes our current knowledge regarding insulin signalling and resistance in the brain and discusses current evidence concerning neurological impairment in T2DM and insulin resistance in AD.
In clinical trials, outcome measures might determine whether a drug is worthy of further development; in the clinic, they might guide important treatment decisions. Here, Tur and colleagues help clinicians and researchers navigate the maze of options for clinical, neuroimaging, patient-reported and composite outcome measures in multiple sclerosis.
In the past few years, novel insights into the links between the molecular and clinicopathological features of meningiomas have provided new opportunities for treatment options. Here, Matthias Preusser and colleagues discuss current progress and future prospects in the development of molecularly driven diagnosis and therapy for meningiomas.
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.
