Michael Bonello
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View article: Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson’s disease study
Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson’s disease study Open
Estimates of the spectrum and frequency of pathogenic variants in Parkinson’s disease (PD) in different populations are currently limited and biased. Furthermore, although therapeutic modification of several genetic targets has reached the…
View article: HLA-DQB1*05 subtypes and not DRB1*10:01 mediates risk in anti-IgLON5 disease
HLA-DQB1*05 subtypes and not DRB1*10:01 mediates risk in anti-IgLON5 disease Open
Anti-IgLON5 disease is a rare and likely underdiagnosed subtype of autoimmune encephalitis. The disease displays a heterogeneous phenotype that includes sleep, movement and bulbar-associated dysfunction. The presence of IgLON5-antibodies i…
View article: Generalized Dystonia Due to a Pathogenic <em>THAP1</em>&nbsp;Variant Showing Sustained Response to Globus Pallidus Deep Brain Stimulation
Generalized Dystonia Due to a Pathogenic <em>THAP1</em> Variant Showing Sustained Response to Globus Pallidus Deep Brain Stimulation Open
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 need…
View article: Vertebral artery dissection managed by interventional radiology
Vertebral artery dissection managed by interventional radiology Open
A 21-year-old patient presented with sudden-onset headache, visual disturbance and left hand incoordination. She was diagnosed with a left vertebral artery dissection of the V3 segment resulting in multiple cerebellar and cerebral infarcts…
View article: Lack of Accredited Clinical Training in Movement Disorders in Europe, Egypt, and Tunisia
Lack of Accredited Clinical Training in Movement Disorders in Europe, Egypt, and Tunisia Open
Background: Little information is available on the official postgraduate and subspecialty training programs in movement disorders (MD) in Europe and North Africa. Objective: To survey the accessible MD clinical training in these regions. M…
View article: Genetic investigation in dementia: new interpretive challenges
Genetic investigation in dementia: new interpretive challenges Open
Genetic testing is increasingly used in the assessment and investigation of individuals with dementia and cognitive impairment. Next generation sequencing dementia panels allow simultaneous parallel examination of multiple genes. But with …
View article: IgLON5 disease responsive to immunotherapy
IgLON5 disease responsive to immunotherapy Open
A 45-year-old man was seen with a history of confusion and disorientation for 1 year, during which time he was unable to identify relatives. He was unable to cope at his work as a plasterer, noticed neck pain, dysphagia, and unexplained we…
View article: Acute Pulmonary Oedema: Not Always Cardiogenic
Acute Pulmonary Oedema: Not Always Cardiogenic Open
A patient presented with fulminant pulmonary oedema and required acute intubation and ventilation. There was no history of a prior cardiac disorder. As he was weaned from sedation, following stabilisation of his pulmonary status, neurologi…
View article: A Case of Ataxia with Isolated Vitamin E Deficiency Initially Diagnosed as Friedreich’s Ataxia
A Case of Ataxia with Isolated Vitamin E Deficiency Initially Diagnosed as Friedreich’s Ataxia Open
Ataxia with isolated vitamin E deficiency (AVED) is a rare autosomal recessive condition that is caused by a mutation in the alpha tocopherol transfer protein gene. It is almost indistinguishable clinically from Friedreich’s ataxia but wit…