Publications by authors named "Mirdhu Wickremaratchi"

Susac syndrome is a rare condition characterised by the clinical triad of encephalopathy, branch retinal artery occlusion, and sensorineural hearing loss. Of the few published cases, there is variability with regard to cognitive outcome. We describe the clinical course and neuropsychological performance of a 21-year-old male patient presenting with severe encephalopathy and later developing the full triad fulfilling the diagnosis of Susac syndrome.

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Approximately 3.6% of patients with Parkinson's disease develop symptoms before age 45. Early-onset Parkinson's disease (EOPD) patients have a higher familial recurrence risk than late-onset patients, and 3 main recessive EOPD genes have been described.

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The impact of Parkinson's disease on quality of life may vary depending on age at onset. We investigated the effect of age at onset on quality of life in a large Parkinson's disease population (n = 426) using a disease-specific rating scale (PDQ-39) and with careful adjustment for confounding and intermediary factors. We also explored the relationship between depression and excessive daytime sleepiness by age at onset and compared this with the general population.

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Acute paraplegia is an emergency requiring immediate assessment by the acute medical team because of the need to rule out compressive lesions of the cord. Early intervention may preserve neurological spinal function and limit persistent disability. In addition, acute paraplegia may be complicated by life-threatening problems.

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Background: Parkinson's disease (PD) is heterogeneous and age at onset may define variation in clinical phenotype. Most previous studies have used various age cut-offs and have been based on clinical case series.

Methods: We have studied the association between clinical features and age of onset in 358 community-based and regional patients with PD.

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Autosomal dominant frontotemporal dementia (FTD) due to mutations in the MAPT gene is referred to as FTD with parkinsonism linked to chromosome 17 with tau pathology (FTDP-17T). Typically the disease begins in the sixth decade of life. We report a novel exon 12 mutation in MAPT (S356T), in a family with an exceptionally early age at onset (27 and 29 years), causing familial behavioural variant frontotemporal dementia.

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