Hugo Morales‐Briceño
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View article: 3634 A seronegative shakedown: steroid-responsive encephalomyelitis and optic neuritis presenting with myoclonus, encephalopathy and vision loss
3634 A seronegative shakedown: steroid-responsive encephalomyelitis and optic neuritis presenting with myoclonus, encephalopathy and vision loss Open
View article: A Randomized, Double‐Blind, Placebo Controlled, Crossover Trial of <scp>incobotulinumtoxinA</scp> Treatment for Upper Limb Tremor
A Randomized, Double‐Blind, Placebo Controlled, Crossover Trial of <span>incobotulinumtoxinA</span> Treatment for Upper Limb Tremor Open
Background Proximal upper limb tremor is a common, functionally disabling condition. Medical therapy is often ineffective. IncobotulinumtoxinA can significantly improve tremor with minimal adverse effects. Objectives We aimed to compare cl…
View article: Disorder of the Neuromuscular Junction as a Mimic of Focal Dystonia
Disorder of the Neuromuscular Junction as a Mimic of Focal Dystonia Open
View article: Not So Smooth Sailing: <scp><i>FIG4</i></scp>‐Related Disease Is a Differential Diagnosis of Rapid Onset Dystonia‐Parkinsonism
Not So Smooth Sailing: <span><i>FIG4</i></span>‐Related Disease Is a Differential Diagnosis of Rapid Onset Dystonia‐Parkinsonism Open
View article: <i>KMT2B</i>-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
<i>KMT2B</i>-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation. Open
Heterozygous mutations in KMT2B are associated with an early-onset, progressive and often complex dystonia (DYT28). Key characteristics of typical disease include focal motor features at disease presentation, evolving through a caud…
View article: Expert commentary for: A challenging case of cerebellar ataxia associated with orofacial dominant chorea
Expert commentary for: A challenging case of cerebellar ataxia associated with orofacial dominant chorea Open
View article: Genome sequencing reanalysis increases the diagnostic yield in dystonia
Genome sequencing reanalysis increases the diagnostic yield in dystonia Open
GS data reanalysis increased the diagnostic yield from 11.7 % to 18.9 %, with potential extension up to 22.5 %. While optimal timing for diagnostic reanalysis remains to be determined, this study demonstrates that periodic re-interrogation…
View article: <scp><i>DHDDS</i></scp> and <scp><i>NUS1</i></scp>: A Converging Pathway and Common Phenotype
<span><i>DHDDS</i></span> and <span><i>NUS1</i></span>: A Converging Pathway and Common Phenotype Open
Background Variants in dehydrodolichol diphosphate synthetase ( DHDDS ) and nuclear undecaprenyl pyrophosphate synthase 1 ( NUS1 ) cause a neurodevelopmental disorder, classically with prominent epilepsy. Recent reports suggest a complex m…
View article: Exploring Parkinson's disease prevalence in regional, rural and remote Australia: A systematic scoping review
Exploring Parkinson's disease prevalence in regional, rural and remote Australia: A systematic scoping review Open
Introduction Idiopathic Parkinson's disease (PD) is the second most prevalent neurodegenerative disorder worldwide. Due to ageing populations, prevalence estimates for PD are set to increase in western countries including Australia. Object…
View article: Clinical and Neurophysiological Features of Orthostatic Myoclonus in a Patient with <scp>IgLON5</scp>‐Disease: A Novel Presentation
Clinical and Neurophysiological Features of Orthostatic Myoclonus in a Patient with <span>IgLON5</span>‐Disease: A Novel Presentation Open
Data S1. Supporting Information. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corre…
View article: Seeing What Is Not There: Revisiting a Diagnostic Conundrum in the Clinic
Seeing What Is Not There: Revisiting a Diagnostic Conundrum in the Clinic Open
View article: Oculomotor Apraxia as an Early Presenting Sign of Juvenile‐Onset Huntington's Disease
Oculomotor Apraxia as an Early Presenting Sign of Juvenile‐Onset Huntington's Disease Open
Juvenile onset Huntington's disease (HD), defined as symptom onset before age 21 years accounts for 5–10% of all cases of HD.1 HD is an autosomal dominant progressive neurodegenerative disorder caused by cytosine-adenine-guanine (CAG) trin…
View article: A single centre prospective study of three device-assisted therapies for Parkinson’s disease
A single centre prospective study of three device-assisted therapies for Parkinson’s disease Open
Comparative studies assessing outcomes with the three device-assisted therapies could help to individualise treatment for patients living with Parkinson’s disease. We designed a single-centre non-randomised prospective observational study …
View article: <scp><i>NOTCH2NLC</i> GGC</scp> Repeat Expansion Presenting as Adult‐Onset Cervical Dystonia
<span><i>NOTCH2NLC</i> GGC</span> Repeat Expansion Presenting as Adult‐Onset Cervical Dystonia Open
Neuronal intranuclear inclusion disease (NIID) is the pathological hallmark of a heterogeneous neurodegenerative disease spanning dementia, neuropathy, parkinsonism, encephalitic episodes, and seizures.1 Onset may be in infancy, childhood,…
View article: <scp>ATP1A3‐Related</scp> Relapsing Encephalopathy with Cerebellar Ataxia (<scp>RECA</scp>): A Genetic Disorder with an Inflammatory Basis?
<span>ATP1A3‐Related</span> Relapsing Encephalopathy with Cerebellar Ataxia (<span>RECA</span>): A Genetic Disorder with an Inflammatory Basis? Open
We report a 23-year-old man with relapsing encephalopathy with cerebellar ataxia (RECA) secondary to a mutation in ATP1A3, characterized by fever related exacerbations associated with elevated CSF neopterin, and possible response to immuno…
View article: 2456 Cervical cord compression: a unique presentation of McArdle sign
2456 Cervical cord compression: a unique presentation of McArdle sign Open
Objectives We report a unique case of McArdle sign secondary to extrinsic cervical cord compression. McArdle sign is the presence of rapidly reversible weakness induced by neck flexion. It is thought to be entirely specific and 65% sensiti…
View article: 2299 Genetic diagnoses of childhood onset movement disorders
2299 Genetic diagnoses of childhood onset movement disorders Open
Objectives To identify and characterize childhood onset movement disorder phenotypes with underlying genetic etiologies, and to elucidate genetic findings, as part of the larger NeuroCONNECT study. Methods All previous patients known to th…
View article: Isolated Craniocervical Dystonia Without Initial Neuropsychiatric Manifestations Associated with <scp>NMDA</scp>‐Receptor Antibodies
Isolated Craniocervical Dystonia Without Initial Neuropsychiatric Manifestations Associated with <span>NMDA</span>‐Receptor Antibodies Open
File S1. Full list of results from blood, serum, and cerebrospinal fluid tests Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than mi…
View article: Teaching Video NeuroImage: Facial-Faucial-Finger Myoclonus in Kufor-Rakeb Syndrome
Teaching Video NeuroImage: Facial-Faucial-Finger Myoclonus in Kufor-Rakeb Syndrome Open
Two Chinese Australian siblings from nonconsanguineous parents presented with adolescent-onset dystonia-parkinsonism with prominent anxiety. Examination revealed eyelid, lower facial, and distal upper extremity myoclonus (Video 1), which w…
View article: Patterns of Beginning of Dose Motor Deterioration: A New Look at an Old Phenomenon
Patterns of Beginning of Dose Motor Deterioration: A New Look at an Old Phenomenon Open
Beginning of dose motor deterioration (BDMD) was described by Merello and Lees1 in 1992 in six patients with Parkinson's disease (PD) experiencing a motor deterioration induced by levodopa occurring within 10 to 20 min, lasting 10 to 20 mi…
View article: Recurrent Biallelic p.<scp>L347P <i>PINK1</i></scp> Variant in Polynesians with Parkinsonism and Isolated Dopa‐Responsive Dystonia
Recurrent Biallelic p.<span>L347P <i>PINK1</i></span> Variant in Polynesians with Parkinsonism and Isolated Dopa‐Responsive Dystonia Open
In studies of Caucasians with recessive, monogenic early-onset Parkinson's disease (EOPD), mutations in Parkin, PINK1 and DJ1 are most commonly identified.1 The prevalence of genotypes in the Asian Pacific population remains undetermined. …
View article: Possible <scp><i>EIF2AK2</i></scp>‐Associated Stress‐Related Neurological Decompensation with Combined Dystonia and Striatal Lesions
Possible <span><i>EIF2AK2</i></span>‐Associated Stress‐Related Neurological Decompensation with Combined Dystonia and Striatal Lesions Open
Background Variants in EIF2AK2 have been recently associated with a spectrum of neurological disease encompassing isolated dystonia to fever‐related neurological decompensation, movement disorders and leukodystrophy. Case A 32‐year old pat…
View article: The initial diagnosis and management of Parkinson’s disease
The initial diagnosis and management of Parkinson’s disease Open
Parkinson's disease is a multisystem disorder, and the way the diagnosis is delivered, as well as the early management, can have a lasting impact on the patient experience. In this article, the authors present their preferred approach to d…
View article: Parkinsonism and dystonia: Clinical spectrum and diagnostic clues
Parkinsonism and dystonia: Clinical spectrum and diagnostic clues Open
View article: <i>KMT2B</i>-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation
<i>KMT2B</i>-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation Open
Heterozygous mutations in KMT2B are associated with an early-onset, progressive and often complex dystonia (DYT28). Key characteristics of typical disease include focal motor features at disease presentation, evolving through a caudocrania…
View article: The Head Retraction Reflex in <scp>Niemann‐Pick</scp> Type C: A Novel Diagnostic Clue
The Head Retraction Reflex in <span>Niemann‐Pick</span> Type C: A Novel Diagnostic Clue Open
Background The head retraction reflex (HRR) is characterized by the extension of the neck after percussion stimulation of the central facial region. It is either absent or habituates in normal individuals and can become exaggerated and per…
View article: Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders
Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders Open
Bilateral basal ganglia abnormalities on MRI are observed in a wide variety of childhood disorders. MRI pattern recognition can enable rationalization of investigations and also complement clinical and molecular findings, particularly conf…
View article: Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypes
Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypes Open
View article: Clinical and neuroimaging phenotypes of genetic parkinsonism from infancy to adolescence
Clinical and neuroimaging phenotypes of genetic parkinsonism from infancy to adolescence Open
Genetic early-onset parkinsonism presenting from infancy to adolescence (≤21 years old) is a clinically diverse syndrome often combined with other hyperkinetic movement disorders, neurological and imaging abnormalities. The syndrome is gen…
View article: Is Pallido‐Pyramidal Syndrome Still a Useful Concept? No
Is Pallido‐Pyramidal Syndrome Still a Useful Concept? No Open
A syndrome is a characteristic collection of symptoms and signs that tend to cluster together. It is sometimes unique to a single disease but more commonly has multiple potential aetiologies. However, the identification of a syndrome limit…