Nerve high-resolution ultrasonography in tangier disease

Area of Science:

• Neurology
• Genetics
• Biochemistry

Background:

• Tangier disease (TD) is a rare autosomal recessive disorder.
• It causes low high-density lipoprotein (HDL) and cholesterol ester accumulation in tissues.
• Peripheral nerve involvement is a known complication of TD.

Observation:

• This study evaluated nerve high-resolution ultrasonography (HRUS) in three TD patients from an Italian family.
• Patients had the Y1698X mutation in the ABCA1 gene.
• Nerve HRUS was compared to clinical, neurophysiological data, and healthy controls.

Findings:

• Despite documented neurophysiological abnormalities, quantitative nerve HRUS revealed no morphological abnormalities.
• Peripheral nerves in TD patients appeared structurally normal on HRUS.

Implications:

• Current quantitative HRUS may not be sensitive enough to detect subtle nerve changes in Tangier disease.
• Further research with larger cohorts and diverse mutations is needed to validate these findings.
• New imaging or diagnostic techniques may be required to fully assess nerve pathology in TD.