Movers and shakers

  title={Movers and shakers},
  author={Marc C. Patterson},
  pages={15 - 17}
Lumbar puncture was introduced by Wynter1 as a therapy for increased intracranial pressure in tuberculous meningitis, and was popularized as a diagnostic technique by Quincke.2 The test remains indispensable for diagnosing CNS infection, inflammatory diseases, and raised intracranial pressure. The diagnostic potential of the CSF has continued to expand, as methods have become available for reliably measuring analytes that are present in very low concentrations. In this issue of Neurology… 
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The epidemiology, mechanisms, diagnosis and management of isolated dystonia of idiopathic or genetic aetiology is discussed, and combined dySTONia is touched upon where required.



Misdiagnoses in children with dopa-responsive dystonia.

  • M. Jan
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The lumbar puncture for diagnosis of pediatric neurotransmitter diseases

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This review will discuss the disorders affecting catecholamine and serotonin biosynthesis, sample collection and handling, diagnostic methods and expected profiles, problems with diagnosis, and as yet to be described conditions that might be detected using current diagnostic methodologies.

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Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency

Physicians should be aware of this expanded phenotype in affected members of families with GTP cyclohydrolase deficiency, which is clinically characterised by l-dopa responsive, diurnally fluctuating dystonia and parkinsonian symptoms.

Post-infectious new daily persistent headache may respond to intravenous methylprednisolone

It is concluded that NDPH-like headache may occur as a post infectious process following a recent infection.

Familial paroxysmal exercise‐induced dystonia: atypical presentation of autosomal dominant GTP‐cyclohydrolase 1 deficiency

It is proposed that GCH‐1 mutations should be considered a genetic cause of familial PED, especially if additional clinical features of monoaminergic deficiency are present in affected individuals.

Clinical and prognostic subforms of new daily-persistent headache

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Vitamin B6 dependent seizures.

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    The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques
  • 2009
While PLP would benefit all four entities, PNPO patients are typically resistant to pyridoxine and need PLP substitution, and these disorders have to be considered early, to prevent irreversible neurologic damage.

Glut‐1 deficiency syndrome: Clinical, genetic, and therapeutic aspects

There were no obvious correlations between phenotype, genotype, or biochemical measures in new Glut‐1 deficiency syndrome patients, and the ketogenic diet produced good seizure control.

Dopa‐responsive dystonia and early‐onset Parkinson's disease in a patient with GTP cyclohydrolase I deficiency?

The patient probably suffers from a variant of dopa‐responsive dystonia (DRD) or two separate movement disorders, normally considered to be differential diagnoses, DRD and early‐onset Parkinson's disease with resulting difficulties concerning treatment and prognosis.