A Rare Cause of Acquired Non-Wilsonian Hepato-Cerebral Degeneration in a Middle-Aged Woman.

Manganese is an essential trace mineral that has a vital role in maintaining various body functions. Manganese toxicity, referred to as Manganism, causing parkinsonism is a well-known phenomenon that occurs secondary to chronic environmental and occupational exposure to manganese. Patients with underlying chronic liver disease are also susceptible to the toxic accumulation of manganese since it essentially undergoes biliary excretion.

Corneal confocal microscopy demonstrates varying degrees of neurodegeneration in atypical parkinsonian disorders.

Objective: We have used corneal confocal microscopy (CCM) to identify corneal nerve loss as a potential marker of neurodegeneration in participants with Parkinson's disease (PD), multiple system atrophy (MSA) and progressive supranuclear palsy (PSP).

Methods: Patients with PD (n = 19), PSP (n = 11), MSA (n = 8) and healthy controls (n = 18) underwent neurological assessment and CCM.

Results: Corneal nerve fibre density was significantly lower in participants with PD (p = 0.

Frontotemporal Dementia-Parkinsonism Due to Gene Variant Presenting with Rest and Action Tremor.

A 50-year-old male presented with a four-year history of gradually progressive rest tremor in the distal right lower limb and then spreading to the left lower limb in last 10-12 months. He developed right arm rest and action tremor two years later. Magnetic resonance imaging scans showed progressive frontotemporal and asymmetrical mesial temporal atrophy.

Generalized Dystonia Due to a Pathogenic Variant Showing Sustained Response to Globus Pallidus Deep Brain Stimulation.

A 21-year-old woman of south Asian origin presented with cervical dystonia which had progressed over the previous three years. Her symptoms started as writer's cramp since the age of seven years. She did not respond to medications and needed botulinum toxin injection for generalised dystonia.

Pure Autonomic Failure-A Localized Alpha Synucleinopathy with a Potential for Conversion to More Extensive Alpha Synucleinopathies.

Pure autonomic failure (PAF) is an alpha synucleinopathy with predominant involvement of the autonomic ganglia and peripheral nerves. The hallmark clinical feature is orthostatic hypotension. However, genitourinary, sudomotor, and cardiac involvement is also common.

Early Onset Degenerative Parkinsonism - Consider SPG7 Mutation.

A 43-year-old man presented with ataxia and stiffness of lower limbs for approximately last 10 years. The clinical examination revealed bilateral parkinsonism The magnetic resonance imaging of the brain and spine showed no structural abnormality to explain his symptoms. However, the dopamine transporter scan showed abnormal tracer uptake in both basal ganglia, suggestive of degenerative parkinsonism.

C19orf12 mutation causing mitochondrial membrane-protein Associated Neurodegeneration masquerading as spastic paraplegia.

Mitochondrial Membrane-protein Associated Neurodegeneration (MPAN) is a rare disease, caused by C19orf12 mutations and up to 29 different mutations have been described. We report a young woman presented with spastic paraparesis due to C19orf12 gene. MPAN presenting like Hereditary spastic paraplegia-43 is rare and the genetic mutation had been described only once in the literature.

Diaphragmatic paralysis resulting in respiratory failure as a feature of hepatitis E virus-associated neuralgic amyotrophy.

Hepatitis E virus (HEV)-associated neuralgic amyotrophy (NA) is often bilateral and severe, involving structures outside the brachial plexus, such as the phrenic nerves or the lumbosacral plexus. We report a case of an HEV-positive man who had presented with brachial neuritis, with significant phrenic nerve involvement, resulting in diaphragmatic paralysis requiring non-invasive ventilation. Prognosis of HEV-associated NA is often unfavourable and recovery is usually incomplete.

Palatal Tremor - Pathophysiology, Clinical Features, Investigations, Management and Future Challenges.

Background: Palatal tremor is involuntary, rhythmic and oscillatory movement of the soft palate. Palatal tremor can be classified into three subtypes; essential, symptomatic and palatal tremor associated with progressive ataxia.

Methods: A thorough Pubmed search was conducted to look for the original articles, reviews, letters to editor, case reports, and teaching neuroimages, with the keywords "essential", "symptomatic palatal tremor", "myoclonus", "ataxia", "hypertrophic", "olivary" and "degeneration".