Multicenter PLS Cohort Study of Oxidative Stress and Disease Progression
The study design is a prospective multicenter study of 50 patients diagnosed with pure uMn disease or PLS. Study subjects will have a baseline visit and follow up visits at months 12, 24, and briefly at 36. The study will measure survival at 36 months. These visits are timed to correspond to the typical pattern of PLS patient clinic visits. at or around the time of each of these visits, the subjects will give fasting urine and fasting blood samples to the researchers and will be interviewed about past and current environmental exposures, lifestyle, and psychological stress. Clinical measures will also be taken at these visits and will also be recorded from charts for periods after diagnosis and prior to study enrollment. at baseline and months 12 and 24, the patient will complete a food history questionnaire. Skin samples will be collected at baseline.
* clinically definite
* PLS; that is, pure UMN dysfunction (spasticity, pathological hyperreflexia, pathological reflexes with or without motor weakness) of undetermined etiology in at least both arms and legs, and ideally, at least bulbar symptoms (if such cases are exhausted, cases without bulbar symptoms are acceptable).
* have been evaluated at one of the 5 PLS core centers before and are being actively followed by these 5 investigators.
* had PLS symptom onset at least 5 years prior to the evaluation by the investigators but not more 15 years. Symptoms at onset are defined as self-reported subjective weakness of the skeletal or bulbar muscles, excluding fasciculations or cramps.
* had normal nerve conduction studies and normal needle electrode examination 12 months before enrollment, as specifically agreed upon by all of the investigators (in Leg: GC, AT, VL or VM; Arm: 1st DI, B, Pron T; Thor parasp below T5; CN: TG or mentalis).
* meet the pre-screen requirements as detailed in the History and Examination Guideline (Draft Appended).
* have no other definable diseases such as structural brain or spinal cord disease, metabolic diseases, paraneoplastic syndromes, HSP disease, infectious diseases (adrenoleucoencephalomyeloneuropathy), or other significant neurological abnormalities.
* are at least age 20 years. Both genders and all ethnic and racial groups will be included.
* have spinal- OR bulbar-onset disease.
* have a reliable family caregiver or carepartner (biologic relative, spouse or domestic partner, or other unpaid household member) who, if necessary, can assist the patient in providing response on telephone interviews and questionnaires.
* are fluent in English.
* have the capacity to consent: are able to understand and sign the Informed Consent approved by the IRB at each study site and also sign the form for HIPAA regulations. However, if there is a legally appointed representative for the subject who can sign the consent form, then that is sufficient to allow the subject to participate in the study. Any such representative can be used as a proxy in this study only if and to the extent allowed by applicable state or federal law.
* are willing to return to the site for the follow-up examinations.