NCT00362362COMPLETEDN/AThis study will collect blood samples from patients with primary lateral sclerosis (PLS) and amyotrophic lateral sclerosis (ALS) to be used for research on genetic causes of motor neuron diseases and other neurological disorders. Patients 18 years of age and older with PLS or ALS may be eligible for this study. Candidates are screened with a medical history, physical examination and diagnostic tests. Participants provide a blood sample. The sample, along with masked (anonymous) medical and family history information are sent to the NINDS Respository at the Coriell Cell Repositories in Camden, NJ. This facility collects, stores and distributes medical research information and cell cultures and DNA samples to researchers at hospitals, universities and commercial organizations. The blood sample has an identification number that is unrelated to any identifying information for the patient and cannot be tracked back to the patient.
* PRIMARY LATERAL SCLEROSIS INCLUSION CRITERIA: Patients with PLS, aged 18 and older, must meet the diagnostic criteria proposed by Pringle (1992), incorporating Santa Clara (2004) consensus for pure PLS. Clinical: * Insidious onset in adulthood, progressive course * No family history * Disease duration greater than 3 years without lower motor neuron clinical signs * Clinical signs restricted to corticospinal/corticobulbar tract dysfunction Imaging: * Brain MRI normal (except cortical atrophy) * Normal cervical spine * Negative chest X-ray, negative mammograms in women EMG after 3 years, but within last 3 years, showing no active denervation. Normal serological studies for serum chemistry, Vitamin B12, Vitamin E levels, very long-chain fatty acids. Negative serology for syphilis, Lyme disease, HTLV 1 and 2. AMYOTROPHIC LATERAL SCLEROSIS INCLUSION CRITERIA: Patients with ALS, aged 18 and older, must fulfill the revised El Escorial criteria for probable or definite ALS. * Probable ALS: Upper and Lower motor neuron signs are present in more than two regions, but some UMN signs must be rostral to LMN signs. * Definite ALS: Upper and Lower motor neuron signs are present in more than three regions. EXCLUSION CRITERIA: None