Clinical variability and female penetrance in X-linked familial FTD/ALS caused by a P506S mutation in UBQLN2

Medicine and Dentistry

• Frontotemporal Lobar Degeneration 100%
• Amyotrophic Lateral Sclerosis 80%
• Female 80%
• Penetrance 40%
• DeJerine-Sottas Disease 40%
• Family 40%
• Male 40%
• Phenotype 20%
• Paralysis 20%
• Cognition 20%
• Dyspnea 20%
• Cognitive Defect 20%
• Deterioration 20%
• Multiple Sclerosis 20%
• Plummer-Vinson Syndrome 20%
• Dysarthria 20%
• Primary Lateral Sclerosis 20%
• Bulbar Palsy 20%
• Gender 20%
• Weakness 20%
• Patient 20%

Pharmacology, Toxicology and Pharmaceutical Science

• Frontotemporal Dementia 100%
• Amyotrophic Lateral Sclerosis 80%
• Motor Neuron Disease 40%
• Hereditary Motor Sensory Neuropathy 40%
• Dyspnea 20%
• Cognitive Defect 20%
• Dysphagia 20%
• Multiple Sclerosis 20%
• Paralysis 20%
• Weakness 20%
• Primary Lateral Sclerosis 20%
• Dysarthria 20%
• Bulbar Paralysis 20%

Neuroscience

• Frontotemporal Dementia 100%
• Amyotrophic Lateral Sclerosis 80%
• Motor Neurone Disease 40%
• Hereditary Spastic Paraplegia 40%
• Phenotype 20%
• Multiple Sclerosis 20%
• Cognitive Disorders 20%
• Dyspnea 20%
• Dysphagia 20%
• Dysarthria 20%
• Primary Lateral Sclerosis 20%
• Electromyography 20%
• Cognition 20%