Nonsense mutation in DEPDC5 gene in a patient with carbamazepine-responsive focal epilepsy.

•DEPDC-5 is a negative regulator of the mTOR pathway.•DEPDC-5 mutations can cause sleep-related hypermotor epilepsy.•Drug-refractory epilepsy is common in this cohort.

Neuroimaging in hereditary spastic paraplegias: from qualitative cues to precision biomarkers.

Introduction: Hereditary spastic paraplegias (HSP) include a clinically and genetically heterogeneous group of conditions. Novel imaging modalities have been increasingly applied to HSP cohorts, which help to develop monitoring markers for both clinical care and future clinical trials.

Areas Covered: Advances in HSP imaging are systematically reviewed with a focus on cohort sizes, imaging modalities, study design, clinical correlates, methodological approaches, and key findings.

Alterations in somatosensory, visual and auditory pathways in amyotrophic lateral sclerosis: an under-recognised facet of ALS.

Background: While amyotrophic lateral sclerosis (ALS) is widely recognised as a multi-network disorder with extensive frontotemporal and cerebellar involvement, sensory dysfunction is relatively under evaluated. Subtle sensory deficits have been sporadically reported, but there is a prevailing notion that sensory pathways may be relatively spared in ALS.

Methods: In a prospective neuroimaging study we have systematically evaluated cerebral grey and white matter structures involved in the processing, relaying and mediation of sensory information.

Cerebellar pathology in motor neuron disease: neuroplasticity and neurodegeneration.

Amyotrophic lateral sclerosis is a relentlessly progressive multi-system condition. The clinical picture is dominated by upper and lower motor neuron degeneration, but extra-motor pathology is increasingly recognized, including cerebellar pathology. Post-mortem and neuroimaging studies primarily focus on the characterization of supratentorial disease, despite emerging evidence of cerebellar degeneration in amyotrophic lateral sclerosis.

Deciding about nursing home care in dementia: A conjoint analysis of how older people balance competing goals.

Aim: "Don't put me in a home" is a common preference of older people, but so too is "I don't want to be a burden on my family." These and other goals often conflict with each other when people have worsening dementia and the issue of possible nursing home admission arises.

Methods: Community-dwelling older hospital patients were asked to imagine that they lived alone, had dementia and were experiencing increasing practical difficulties, and were presented with 11 possible "outcome packages.