Abstract Details

Title Preliminary Observations on the Role of Skin biopsy in the Evaluation of Subjects with Autonomic and/or Somatic Symptoms

Topic Neuromuscular and Clinical Neurophysiology (EMG)

Presentation(s) Autonomic Disorders Posters (7:00 AM-5:00 PM)

Poster/Presentation
Number 002

Background The evaluation of patients with somatic and/or autonomic symptoms typically includes laboratory data, electromyography and autonomic reflex testing. Recently, skin biopsies to detect amyloid, p-syn and IENFD have become available for clinical testing.

Objective

To define the clinical utility of a skin biopsy stained for protein gene product (PGP 9.5 to quantify intraepidermal nerve fiber density [IENFD]), amyloid protein and phosphorylated alpha synuclein (p-syn) in the evaluation of subjects with somatic and/or autonomic symptoms.

Design/Methods As part of a quality improvement project we examined the role of a triple stain biopsy in patients with autonomic and/or somatic findings.

Results Over 6 months, a triple stained skin biopsy was performed in eighteen subjects(7 women), average age 72.6 years old. Seventeen subjects presented with autonomic symptoms. Eight had REM behavior disorder (RBD), six had loss of smell and nine had mild parkinsonian features. Large fiber sensory loss was detected in eight patients. Autonomic testing was performed in seventeen cases and revealed abnormal pupillary reflexes in ten, abnormal QSWEAT in ten, abnormal cardiovagal function in fifteen and abnormal cardiac sympathetic function in fourteen. Neurogenic orthostatic hypotension was seen in thirteen. Amyloid was not detected in any cases. Fifteen patients had abnormal p-syn deposition: post biopsy diagnoses were pure autonomic failure (n=8), Lewy body dementia (n=3), multiple system atrophy (n=2), Parkinson disease (n=2). Three cases did not have p-syn: one case of diabetic autonomic neuropathy, one case of distal inflammatory demyelinating polyneuropathy and one case of sensory ganglionopathy in Sjogren’s syndrome with drug induced parkinsonism.

Conclusions The novel triple stain skin biopsy is a high quality, facile implementation biomarker, particularly useful in the work up of older patients presenting with autonomic symptoms.

Authors/Disclosures
Alexandru C. Barboi, MD (IU Health Neuroscience Center) PRESENTER	Dr. Barboi has nothing to disclose.
	No disclosure on file
	No disclosure on file
	No disclosure on file
Isidora Kafkas, PA (NorthShore University HealthSystem)	Ms. Kafkas has nothing to disclose.

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