Tuberous sclerosis complex (TSC) is highly variable in clinical presentation and findings. Disease manifestations continue to develop over the lifetime of an affected individual. Accurate diagnosis is fundamental to implementation of appropriate medical surveillance and treatment. Continue reading
Frontotemporal dementia (FTD) is a neurodegenerative disorder mainly affecting the frontal and/or temporal lobes, leading to dementia with prominent behavioural and/or language disturbances. Symptom onset is most often between 45 and 65 years. Continue reading
Essential tremor is considered to be a tremor syndrome characterized by isolated bilateral upper-limb action tremor with a duration of at least 3 years, with or without tremor in other locations, such as head, larynx (voice tremor), or lower limbs.
Essential tremor frequently manifests with additional mild neurologic signs of diagnostic uncertainty, such as mild ataxia, questionably abnormal posturing of the limbs, or impaired memory. This presentation is classified as “essential tremor plus. Continue reading
The pseudotumor cerebri syndrome (PTCS) may be primary (idiopathic intracranial hypertension) or arise from an identifiable secondary cause. Characterization of typical neuroimaging abnormalities, clarification of normal opening pressure in children, and features distinguishing the syndrome of intracranial hypertension without papilledema from intracranial hypertension with papilledema have furthered our understanding of this disorder.
Encephalitis is a severe inflammatory disorder of the brain with many possible causes and a complex differential diagnosis.
Perry syndrome is characterised by rapidly progressive parkinsonism often accompanied by depression/apathy, weight loss and central hypoventilation. Continue reading
The 2017 McDonald criteria continue to apply primarily to patients experiencing a typical clinically isolated syndrome, define what is needed to fulfil dissemination in time and space of lesions in the CNS, and stress the need for no better explanation for the presentation. Continue reading
The Dementia with Lewy Bodies (DLB) Consortium has refined its recommendations about the clinical and pathologic diagnosis of DLB, updating the previous report, which has been in widespread use for the last decade. The revised DLB consensus criteria now distinguish clearly between clinical features and diagnostic biomarkers, and give guidance about optimal methods to establish and interpret these.
This simplified revised set of diagnostic criteria may facilitate its more uniform and widespread applicability in different clinical scenarios and environments. Continue reading
The prerequisite to apply the Movement Disorder Society (MDS-PD) criteria is the diagnosis of parkinsonism, which is based on three cardinal motor manifestations. Parkinsonism is defined as bradykinesia, in combination with either rest tremor, rigidity, or both. These features must be clearly demonstrable and not attributable to confounding factors. Continue reading