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Antipsychotic Drugs: Typical and Atypical Agents01:21

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Antipsychotic drugs are classified into first-generation (typical) drugs including phenothiazines; and second-generation (atypical) drugs. Chlorpromazine hydrochloride (Thorazine), a phenothiazine derivative, broadly impacts the central, autonomic, and endocrine systems. This drug, along with typical agents like haloperidol (Haldol), primarily works by antagonizing D2 receptors, thus reducing dopaminergic neurotransmission. However, typical antipsychotics can cause side effects such as sedation...
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Related Experiment Video

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Clinical Examination Protocol to Detect Atypical and Classical Scrapie in Sheep
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[X-linked adrenoleukodystrophy with an atypical radiological pattern].

A Ulate-Campos1,2,3, J Petanas-Argemi1,2, M Rebollo-Polo2

  • 1CIBERER. Centro de Investigacion Biomedica en Red-Enfermedades Raras, Barcelona, Espana.

Revista De Neurologia
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Summary

X-linked adrenoleukodystrophy (X-ALD), a peroxisomal disorder, presents unusually with symmetrical demyelination and calcifications. This rare presentation in children requires consideration for timely diagnosis of ABCD1 gene mutations.

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Area of Science:

  • Neurology
  • Genetics
  • Biochemistry

Background:

  • X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder, caused by ABCD1 gene mutations.
  • It leads to impaired very long-chain fatty acid beta-oxidation and accumulation.
  • Cerebral X-ALD typically shows posterior periventricular demyelination on imaging.

Observation:

  • A 10-year-old boy presented with right spastic hemiparesis and cognitive decline.
  • Brain MRI revealed symmetrical white matter demyelination in the frontoparietotemporal region.
  • CT scans showed calcifications; elevated very long-chain fatty acids and an ABCD1 pathogenic variant confirmed X-ALD.

Findings:

  • This case demonstrates an unusual presentation of X-ALD with symmetrical demyelination and calcifications.
  • These atypical radiological findings are rarely reported in X-ALD.
  • The diagnosis was confirmed through biochemical and genetic testing.

Implications:

  • Rare presentations of X-ALD, like symmetrical demyelination with calcifications, can delay diagnosis.
  • Clinicians should consider this exceptional presentation in children with subacute neurological symptoms.
  • Early recognition is crucial for managing X-ALD and its potential progression.