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X-ray Imaging01:24

X-ray Imaging

German physicist Wilhelm Röntgen (1845–1923) was experimenting with electrical current when he discovered that a mysterious and invisible "ray" would pass through his flesh but leave an outline of his bones on a screen coated with a metal compound. In 1895, Röntgen made the first durable record of the internal parts of a living human: an "X-ray" image (as it came to be called) of his wife’s hand. Scientists worldwide quickly began their own experiments with X-rays, and by 1900, X-ray was widely...
X-ray Diffraction of Biological Samples01:10

X-ray Diffraction of Biological Samples

X-ray diffraction or XRD is an analytical tool that utilizes X-rays to study ordered structures such as crystalline organic and inorganic samples, polycrystalline materials, proteins, carbohydrates, and drugs.
According to Bragg's law, when X-rays strike the sample positioned on a stage, the rays are  scattered by the electron clouds around the sample atoms. The  X-ray diffraction or scattering is caused by constructive interference of the X-ray waves that reflect off the internal crystal...

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Updated: Jun 7, 2026

Imaging Cleared Intact Biological Systems at a Cellular Level by 3DISCO
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Published on: July 7, 2014

Understanding XDP through imaging, pathology, and genetics.

Paul Matthew D Pasco1, Claro V Ison, Edwin L Muňoz

  • 1Child Neurosciences Center, Philippine Children's Medical Center, Quezon City, Philippines. pasco.paul@gmail.com

The International Journal of Neuroscience
|November 2, 2010
PubMed
Summary

X-linked dystonia-parkinsonism (XDP) involves brain changes in the caudate and putamen. A genetic TAF1 insertion likely causes XDP by disrupting neuron function, paving the way for targeted therapies.

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Area of Science:

  • Neuroscience
  • Genetics
  • Neurology

Background:

  • X-linked dystonia-parkinsonism (XDP) is a severe, progressive neurological disorder endemic in Filipinos.
  • It is characterized by initial dystonic movements followed by parkinsonism.

Purpose of the Study:

  • To summarize findings from imaging, pathological, and genetic studies of XDP.
  • To elucidate the pathophysiology of XDP and guide rational therapy development.

Main Methods:

  • Cranial magnetic resonance imaging (MRI) to observe brain structure.
  • Neuropathological examination of brain tissue.
  • Genetic sequencing to identify causative mutations.

Main Results:

  • MRI revealed putaminal rim hyperintensity and caudate/putamen atrophy in XDP patients.
  • Pathology showed neuronal loss and gliosis in the caudate and putamen, with distinct striatal involvement patterns in dystonic and parkinsonian phases.
  • An SVA retrotransposon insertion in the TAF1 gene was identified as the likely genetic cause.

Conclusions:

  • Imaging and pathology reveal progressive neurodegeneration in the basal ganglia.
  • The TAF1 gene insertion may impair neuron function and gene transcription, leading to XDP.
  • Understanding XDP pathophysiology through integrated studies offers hope for targeted therapeutic strategies.