Usefulness of α-synuclein as a Marker for Early Diagnosis of Parkinson's Disease in Skin Biopsy.

NCT01380899 | Completed Results DMC

• 1 other identifier: UASLP-PD001
• Study Type: observational
• Target: 87
• Locations: 1 country
• Sites: 1

Brief Summary

Parkinson's disease (PD) is a degenerative disease that can be difficult to diagnose. The clinicopathological studies had demonstrated a 76% accuracy in the clinical diagnosis of PD. At the beginning of PD is difficult for the clinician to distinguish from Parkinsonism Plus Syndromes (PPS) due to the similarity of symptoms and the lack of specific diagnostic tests. Specific biomarkers to help improve the accuracy of diagnosis and to separate these two entities are highly needed The histological hallmark for definite diagnosis of PD is the presence of fibrillar aggregates of phosphorylated alpha-synuclein called Lewy bodies (LBs) and Lewy neurites. Previous autopsy-based studies have revealed that alpha-synuclein is deposited in the peripheral autonomic nervous system including the enteric nervous system of the alimentary tract, cardiac plexus, adrenal medulla and skin. For this reason, in patients with parkinsonism, an alternative tool could be to demonstrate alpha-synuclein fibrillar aggregates in the skin, allowing early and appropriate diagnosis.

Conditions

Parkinson Disease; Parkinsonian Disorders

Keywords

Parkinson Disease; Parkinsonian Disorders; Lewy Bodies; alpha-Synuclein

Outcome Measures

Primary Outcomes (1)

• Demonstrate the Presence of Alpha-Synuclein Inclusions in the Skin of Parkinson's Disease and Compare With an Atypical Parkinsonism Group and With a Healthy Control Group.

  The presence in the brain of a-synuclein containing Lewy neurites, or bodies, is the histological hallmark of Parkinson's disease (PD). The discovery of alpha-synuclein aggregates in nerve endings of the heart, digestive tract, and skin has lent support to the concept of PD as a systemic disease. First, our goal was to demonstrate the presence of alpha-synuclein inclusions in the skin of PD patients. Second, to detect quantitative differences (measures in the percentage of presence in the skin´s cells) between patients with PD, atypical parkinsonism (AP), compared with an apparent healthy group.

  An average of seven days.

Study Arms (3)

PD Parkinson´s Disrease

We are studying the presence of alpha-synuclein in the epidermis and dermis besides the end nerve terminal. We have several reports until now, and we are following the study because we wish to convince the academic and scientific society over the utility of this study to be close to the molecular diagnosis of this kind of disease.

Procedure: Biopsy of skin

AP Atypical Parkinsonism

with neurodegenerative disease (proteinopathies) and secondary AP.

Control group

Subjects without neurodegenerative disease and apparently good health status with an age that matches the problems groups

Interventions

Biopsy of skin PROCEDURE

Under local anesthesia with 1% xylocaine, 4-mm punch biopsies with 3-mm depth, including the dermis and subcutaneous fat tissue, will undergone from two regions, neck and lower back.

PD Parkinson´s Disrease

Eligibility Criteria

• Age: 35 Years - 95 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

The patients will be selected from the department of neurology and the office of the principal investigator.

You may qualify if:

• Clinical diagnosis of Parkinson's Disease or Parkinson Plus Syndrome
• Subject is a male or female between the age of 50 and 95
• Subject will write the informed consent

You may not qualify if:

• History of stroke or/and trauma
• Signs of cerebrovascular pathology
• Brain tumor
• Severe unrelated neurological or physical disease

Sponsors & Collaborators

• Universidad Autonoma de San Luis Potosí: lead

Study Sites (1)

Hospital Central Dr. Ignacio Morones Prieto

San Luis Potosí City, 78290, Mexico

Location

Related Publications (10)

• Nutt JG, Wooten GF. Clinical practice. Diagnosis and initial management of Parkinson's disease. N Engl J Med. 2005 Sep 8;353(10):1021-7. doi: 10.1056/NEJMcp043908. No abstract available.

  PMID: 16148287 BACKGROUND

• Gelb DJ, Oliver E, Gilman S. Diagnostic criteria for Parkinson disease. Arch Neurol. 1999 Jan;56(1):33-9. doi: 10.1001/archneur.56.1.33.

  PMID: 9923759 BACKGROUND

• Hughes AJ, Daniel SE, Kilford L, Lees AJ. Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases. J Neurol Neurosurg Psychiatry. 1992 Mar;55(3):181-4. doi: 10.1136/jnnp.55.3.181.

  PMID: 1564476 BACKGROUND

• Tuite PJ, Krawczewski K. Parkinsonism: a review-of-systems approach to diagnosis. Semin Neurol. 2007 Apr;27(2):113-22. doi: 10.1055/s-2007-971174.

  PMID: 17390256 BACKGROUND

• Ibanez-Salazar A, Banuelos-Hernandez B, Rodriguez-Leyva I, Chi-Ahumada E, Monreal-Escalante E, Jimenez-Capdeville ME, Rosales-Mendoza S. Oxidative Stress Modifies the Levels and Phosphorylation State of Tau Protein in Human Fibroblasts. Front Neurosci. 2017 Sep 7;11:495. doi: 10.3389/fnins.2017.00495. eCollection 2017.

  PMID: 28936161 BACKGROUND

• Rodriguez-Leyva I, Calderon-Garciduenas AL, Jimenez-Capdeville ME, Renteria-Palomo AA, Hernandez-Rodriguez HG, Valdes-Rodriguez R, Fuentes-Ahumada C, Torres-Alvarez B, Sepulveda-Saavedra J, Soto-Dominguez A, Santoyo ME, Rodriguez-Moreno JI, Castanedo-Cazares JP. alpha-Synuclein inclusions in the skin of Parkinson's disease and parkinsonism. Ann Clin Transl Neurol. 2014 Jul;1(7):471-8. doi: 10.1002/acn3.78. Epub 2014 Jul 1.

  PMID: 25356418 RESULT

• Rodriguez-Leyva I, Chi-Ahumada EG, Carrizales J, Rodriguez-Violante M, Velazquez-Osuna S, Medina-Mier V, Martel-Gallegos MG, Zarazua S, Enriquez-Macias L, Castro A, Calderon-Garciduenas AL, Jimenez-Capdeville ME. Parkinson disease and progressive supranuclear palsy: protein expression in skin. Ann Clin Transl Neurol. 2016 Feb 1;3(3):191-9. doi: 10.1002/acn3.285. eCollection 2016 Mar.

  PMID: 27042679 RESULT

• Rodriguez-Leyva I, Chi-Ahumada E, Mejia M, Castanedo-Cazares JP, Eng W, Saikaly SK, Carrizales J, Levine TD, Norman RA, Jimenez-Capdeville ME. The Presence of Alpha-Synuclein in Skin from Melanoma and Patients with Parkinson's Disease. Mov Disord Clin Pract. 2017 Jun 1;4(5):724-732. doi: 10.1002/mdc3.12494. eCollection 2017 Sep-Oct.

  PMID: 30363411 RESULT

• Mejia M, Rodriguez-Leyva I, Cortes-Enriquez F, Chi-Ahumada E, Portales-Perez DP, Macias-Islas MA, Jimenez-Capdeville ME. Low levels of alpha-synuclein in peripheral tissues are related to clinical relapse in relapsing-remitting multiple sclerosis: a pilot cross-sectional study. J Neurol Sci. 2019 Jan 15;396:87-93. doi: 10.1016/j.jns.2018.11.003. Epub 2018 Nov 3.

  PMID: 30445232 RESULT

• Jimenez-Capdeville ME, Chi-Ahumada E, Garcia-Ortega F, Castanedo-Cazares JP, Norman R, Rodriguez-Leyva I. Nuclear Alpha-Synuclein in Parkinson's Disease and the Malignant Transformation in Melanoma. Neurol Res Int. 2025 Jan 6;2025:1119424. doi: 10.1155/nri/1119424. eCollection 2025.

  PMID: 39816956 DERIVED

Biospecimen

Retention: SAMPLES WITH DNA

We are obtaining the skin of the participants, by biopsy using a punch 3-4 mm in retro auricular area. We are taking from affected subjects and his or her partner (the most husband or wife).

MeSH Terms

Conditions

Parkinson Disease; Parkinsonian Disorders; Parkinson Disease 4, Autosomal Dominant Lewy Body

Condition Hierarchy (Ancestors)

Basal Ganglia Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Movement Disorders; Synucleinopathies; Neurodegenerative Diseases

Results Point of Contact

• Title: Ildefonso Rodriguez-Leyva
• Organization: Facultad de Medicina, Universidad Autonoma de San Luis Potosi

ildefonso.rodriguez@uaslp.mx

+52 4442043016

Study Officials

• Ildefonso Rodríguez-Leyva, MD

  Hospital Central "Dr. Ignacio Morones Prieto"

  PRINCIPAL INVESTIGATOR

• Maria E Jimenez-Capdeville, PhD

  Universidad Autonoma de San Luis Potosi

  STUDY DIRECTOR

• Juan P Castanedo-Cazares, MD

  Hospital Dr. Ignacio Morones Prieto

  STUDY DIRECTOR

• Erika G Chi-Ahumada, MC

  Facultad de Medicina, UASLP

  STUDY CHAIR

• Maria E Jimenez-Capdeville, PhD

  Facultad de Medicina

  STUDY CHAIR

• Robert A. Norman, MD, PhD.

  Independent Dermatologist

  STUDY CHAIR

Publication Agreements

• PI is Sponsor Employee: No
• Restrictive Agreement: No

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: MD, PhD, FAAN, FANA

Study Record Dates

• First Submitted: June 17, 2011
• First Posted: June 27, 2011
• Study Start: February 1, 2011
• Primary Completion: October 1, 2014
• Study Completion: October 1, 2014
• Last Updated: May 25, 2021
• Results First Posted: May 25, 2021

Record last verified: 2021-05

Data Sharing

• IPD Sharing: Will not share

Locations

ME (1)