Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Current perception threshold testing in Fabry's disease.

L S Ro1, S T Chen, L M Tang

  • 1Department of Neurology, Chang Gung Memorial Hospital, and Chang Gung University, 199 Tung Hwa North Road, Taipei, Taiwan 10591. cgrols@adm.cgmh.com.tw

Muscle & Nerve
|October 8, 1999
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Oxygen, arterial blood gases and ventilation are unchanged during dialysis in patients receiving pressure support ventilation.

Respiratory medicine·1998
Same author

Perinatal hypoxic/ischemic encephalopathy: clinical challenge and experimental implications.

Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui·1998
Same author

Urinary levels of inorganic and organic arsenic metabolites among residents in an arseniasis-hyperendemic area in Taiwan.

Journal of toxicology and environmental health. Part A·1998
Same author

Subdural empyema in 10 infants: US characteristics and clinical correlates.

Radiology·1998
Same author

X-linked recessive bulbospinal neuronopathy: clinical and molecular studies in a Taiwanese family.

Journal of the Formosan Medical Association = Taiwan yi zhi·1998
Same author

Short-term treatment of obesity with fluoxetine as a supplement to a low calorie diet.

Changgeng yi xue za zhi·1998
Same journal

Join AANEM.

Muscle & nerve·2026
Same journal

Targeted Muscle Reinnervation for Management and Prevention of Symptomatic Neuroma.

Muscle & nerve·2026
Same journal

AANEM News & Insights.

Muscle & nerve·2026
Same journal

Fat-Fraction Quantification Using Three-Point Dixon Technique in Duchenne Muscular Dystrophy and Its Correlation With Clinical Progression and Genotypic Characteristics: A Single Centre One-Year Prospective Study.

Muscle & nerve·2026
Same journal

Characterizing Combined Central and Peripheral Demyelination-Insights From a Multimodal Comparison With Chronic Inflammatory Demyelinating Polyneuropathy and Multiple Sclerosis.

Muscle & nerve·2026
Same journal

Electrical Modalities in the Rehabilitation of Peripheral Nerve Injuries: State of the Literature and Current Clinical Applications.

Muscle & nerve·2026
See all related articles

Constant current perception threshold (CPT) testing effectively detects sensory neuropathy in Fabry

Area of Science:

  • Neurology
  • Genetics
  • Biochemistry

Background:

  • Fabry disease is a rare genetic disorder affecting sensory nerve fibers.
  • Assessing sensory neuropathy is crucial for understanding disease progression and management.
  • Existing diagnostic methods may have limitations in sensitivity.

Purpose of the Study:

  • To evaluate the efficacy of constant current perception threshold (CPT) testing in detecting sensory neuropathy in Fabry disease.
  • To compare CPT testing with nerve conduction studies (NCS) for diagnosing sensory neuropathy.
  • To explore correlations between CPT results, clinical symptoms, and biochemical markers.

Main Methods:

  • Investigated 16 patients (8 hemizygous men, 8 heterozygous women) from one family with Fabry disease.

Related Experiment Videos

  • Utilized constant current perception threshold (CPT) testing across three sensory nerve fiber populations.
  • Performed nerve conduction studies (NCS), clinical examinations, and biochemical analyses (serum alpha-galactosidase A activity, creatinine clearance).

    • Main Results:

    • Low-frequency CPT testing (5 and 250 Hz) demonstrated higher sensitivity in detecting sensory neuropathy compared to high-frequency CPT (2 kHz) and NCS.
    • No significant correlation was found between CPT results and clinical symptom scores, disease duration, renal function (creatinine clearance), or enzyme activity (alpha-galactosidase A).
    • Hemizygous men exhibited more severe symptoms, poorer renal function, and a higher prevalence of hypohidrosis and angiokeratomas than heterozygous women.

    Conclusions:

    • Low-frequency CPT testing is a sensitive tool for diagnosing sensory neuropathy in Fabry disease.
    • Clinical examination is valuable for differentiating disease severity between hemizygous men and heterozygous women.
    • Biochemical markers like serum alpha-galactosidase A activity do not reliably predict clinical severity or renal function in Fabry disease.