Case Reports/Case SeriesAmyotrophic Lateral Sclerosis and Frontotemporal Lobar Degeneration in Association With CADASILKim, Hee-Jin MD, PhD*; Kim, Hyun Young MD, PhD*; Ki Paek, Won MD, PhD*; Park, Aram MA*; Young Park, Mee MD, PhD†; Seok Ki, Chang MD, PhD‡; Park, Hyeon-Mi MD, PhD§; Kim, Seung H. MD, PhD*Author Information *Department of Neurology, College of Medicine, Hanyang University †Department of Neurology, College of Medicine, Yeungnam University ‡Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea §Department of Neurology, Gil Hospital, Gacheon University Supported by a grant of the Korean Health Technology R&D Project, Ministry for Health, Welfare & Family Affairs, Republic of Korea (A101712). The authors declare no conflict of interest. Reprints: Seung H. Kim, MD, PhD, Department of Neurology, College of Medicine, Hanyang University, 17 Haengdang-dong, Seongdong-gu, Seoul, 133-070, South Korea. E-mail: [email protected]. The Neurologist: March 2012 - Volume 18 - Issue 2 - p 92-95 doi: 10.1097/NRL.0b013e318247bb2d Buy Metrics Abstract Amyotrophic lateral sclerosis (ALS) can present with heterogeneous symptoms resulting from the involvement of multiple brain systems including extramotor cortical areas. Involvement of other brain areas can cause diverse clinical symptoms including cognitive impairment and extrapyramidal symptoms. We report the case of a 50-year-old woman with bulbar onset ALS and frontotemporal lobar degeneration (FTLD), confirmed as cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). The patient and her first-degree relatives harbored a mutation (R75P) in the NOTCH3 gene, indicative of vascular deficits. The details of this case add plausibility to the idea that ALS, FTLD, and CADASIL are different aspects of a spectrum of disorders with overlapping pathologic mechanisms. © 2012 Lippincott Williams & Wilkins, Inc.