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This project comprises three sets of physiological studies - testing eight specific hypotheses - that will contribute new knowledge on proprioception and motor control in a genetic disorder that affects specific components of the sensory nervous system.
I: To investigate the neurophysiological basis for disturbed motor control in Hereditary sensory and autonomic neuropathy (HSAN) III II: To investigate the effects of enhancing cutaneous feedback on motor control in HSAN III III: To investigate the cortical representation of proprioceptive inputs in HSAN III
HSAN III patients (n=15) and healthy control subjects (n=15) will lay supine on an MRI bed and a tungsten microelectrode inserted percutaneously into a muscle or cutaneous fascicle of the right common peroneal nerve at the fibular head, according to standard techniques employed by Prof Macefield. Neural activity will be acquired, RMS-processed (200 ms) and analysed on computer. The subject's head will be tightly enclosed in a standard clinical 32-channel SENSE head coil and headphones will be provided to minimize noise and to allow communication with the subject. The subject will be placed in the bore of a 3T whole-body scanner for 60-90 minutes.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| HSAN III | Experimental |
| |
| Control Subjects | Active Comparator |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| kinesiology tape around the hip, knee and ankle joints | Other | We will also demonstrate that taping the skin increases the central representation of cutaneous afferent input in HSAN III. |
| Measure | Description | Time Frame |
|---|---|---|
| Measurement of gait in HSAN III | 120 Minutes |
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Inclusion Criteria:
Exclusion Criteria:
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| Name | Affiliation | Role |
|---|---|---|
| Horacio Kaufmann, MD | New York University Medical School | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| New York University School of Medicine | New York | New York | 10016 | United States |
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| ID | Term |
|---|---|
| D009477 | Hereditary Sensory and Autonomic Neuropathies |
| D004402 | Dysautonomia, Familial |
| ID | Term |
|---|---|
| D009421 | Nervous System Malformations |
| D009422 | Nervous System Diseases |
| D020271 | Heredodegenerative Disorders, Nervous System |
| D019636 | Neurodegenerative Diseases |
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| No kinesiology tape around the hip, knee and ankle joints | Other | Investigators will demonstrate that taping the skin increases the central representation of cutaneous afferent input in HSAN III. |
|
| D011115 | Polyneuropathies |
| D010523 | Peripheral Nervous System Diseases |
| D009468 | Neuromuscular Diseases |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D030342 | Genetic Diseases, Inborn |
| D054969 | Primary Dysautonomias |
| D001342 | Autonomic Nervous System Diseases |