Investigating Complex Neurodegenerative Disorders Related to Amyotrophic Lateral Sclerosis and Frontotemporal Dementia

Objectives

The primary objective is to screen patients who are referred with a diagnosis of
frontotemporal dementia, motor neuron disorder, or related adult-onset neurodegenerative
disorder to assess patient eligibility for ongoing protocols. The secondary objective is to
develop and maintain a registry of characterized patients who may be eligible for future
trials. An exploratory objective is to obtain biospecimens from clinically characterized
patients to carry out laboratory-based studies aimed at understanding the molecular pathways
and genetic overlap between these neurodegenerative disorders.

Study population

Adults referred with clinical diagnoses of frontotemporal dementia, motor neuron disorder, or
related adult-onset neurodegenerative disorder.

Design

Participants will all undergo diagnostic screening tests, a standard battery of tests to
measure cognitive and motor function, and blood for clinical testing and research. Additional
diagnostic and research testing, including magnetic resonance imaging, electromyography,
neuropsychological testing, lumbar puncture, and skin biopsy will be obtained in selected
patients.

Outcome measures

Patients will be screened for eligibility for current research protocol or entered into a
registry future research protocols

- INCLUSION CRITERIA:

Patients will be included if they

- Are age 18 or older

- Have been given a diagnosis by a neurologist of frontotemporal dementia,
frontotemporal lobar degeneration, primary progressive aphasia, semantic dementia,
motor neuron disorder, amyotrophic lateral sclerosis, primary lateral sclerosis,
progressive bulbar palsy, corticobasal syndrome, Huntington disease or other related
adult-onset neurodegenerative Disorder

EXCLUSION CRITERIA:

Patients will be excluded if they

- have other major neurological or medical diseases that may cause progressive weakness
or cognitive dysfunction, such as structural brain or spinal cord disease, metabolic
diseases, paraneoplastic syndromes, infectious diseases, peripheral neuropathy or
radiculopathy or other significant neurological abnormalities.

- Have an unstable medical condition that, in the opinion of the investigators, makes
participation unsafe

- require daytime ventilator support at the time of study entry

- are unable to travel to NIH

- Patients with pacemakers or other implanted electrical devices, brain stimulators,
dental implants, aneurysm clips (metal clips on the wall of a large artery), metallic
prostheses (including metal pins and rods, heart valves, and cochlear implants),
permanent eyeliner, implanted delivery pumps, or shrapnel fragments, metal fragments
in the eye) will not be excluded but will not undergo magnetic resonance imaging.