Amyotrophic lateral sclerosis is a progressive and devastating neurodegenerative disease.
Despite decades of clinical trials, effective disease-modifying drugs remain scarce. To …

Abstract Background The Hospital Anxiety and Depression Scale (HADS) is commonly used
to assess symptoms of anxiety and depression in motor neurone disease (MND). The …

Objectives Schwannomatosis is a dominantly inherited condition predisposing to
schwannomas of mainly spinal and peripheral nerves with some diagnostic overlap with …

Aims A hexanucleotide expansion in C9orf72 is the major genetic cause of inherited
behavioural variant Frontotemporal dementia (bvFTD) and motor neurone disease (MND) …

Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) is an autosomal
recessive neurodegenerative disease, usually caused by biallelic AAGGG repeat …

Abstract Objectives: Using the Wilson and Cleary model linking clinical variables to quality of
life, we explored the associations between physical and psychological factors, disability …

Abstract The inositol 1, 4, 5-triphosphate receptor type 1 (ITPR1) gene on chromosome 3
belongs to a family of genes encoding intracellular calcium channel proteins. Such channels …

Purpose The increased adoption of genomic strategies in the clinic makes it imperative for
diagnostic laboratories to improve the efficiency of variant interpretation. Clinical exome …

It has been suggested that patients with motor neurone disease (MND) and those with MND
combined with behavioural variant frontotemporal dementia (bvFTD)(ie FTD+ MND) or with …

Introduction: Patients with neurofibromatosis type 1 (NF1) are at risk of developing
phaeochromocytomas/paragangliomas (PHAEO/PG). Unlike in other familial PHAEO/PG …