Hereditary haemochromatosis (HH) is a genetic disorder in which abnormal iron handling leads to excessive iron accumulation in systemic tissues. Magnetic resonance imaging studies suggest excess iron ...

Background: Therapeutic outcome of Wilson’s disease (WD) significantly depends upon its early recognition. However, because of its rarity in community and protean manifestations, the diagnosis and ...

Background GBA variants increase the risk of developing Parkinson disease (PD) and influence its outcome. Deep brain stimulation (DBS) is a recognised therapeutic option for advanced PD. Data on DBS ...

Introduction Post-stroke fatigue negatively influences short-term functional outcome in older stroke survivors. In young adults, in the midst of their active working and family life, this influence ...

The diagnosis of post-encephalitic Parkinsonism is rarely entertained today. In this paper we discuss eight recent patients, six of whom presented in the last 20 years, that conform to the diagnosis ...

Objective To perform a systematic review of cases reported in the literature in which a peripheral trauma preceded the onset of a movement disorder (MD). Methods Two reviewers independently searched ...

Background The international Inherited Neuropathy Consortium (INC) was created with the goal of obtaining much needed natural history data for patients with Charcot-Marie-Tooth (CMT) disease. We ...

Objective: To clarify the progression of autonomic symptoms and functional deterioration in pure autonomic failure (PAF), particularly in comparison with multiple system atrophy (MSA). Methods: The ...

Niemann-Pick disease type C (NPC) is an autosomal recessive neurometabolic disorder that rarely presents in adulthood, and is associated with cognitive decline, various movement disorders (ataxia, ...

Objective: The objective of the Predict-HD study is to use genetic, neurobiological and refined clinical markers to understand the early progression of Huntington’s disease (HD), prior to the point of ...

Background Cognitive and behavioural dysfunction may occur in people with motor neuron disease (MND), with some studies suggesting an association with the C9ORF72 repeat expansion. Their onset and ...

While taking the history from a patient with possible cognitive impairment, ‘the physician may observe that the patient exhibits the head turning sign (looking at his care-giver when asked a question) ...