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Case Report/Case Series |

Multiple System Atrophy and Amyotrophic Lateral Sclerosis in a Family With Hexanucleotide Repeat Expansions in C9orf72

Jill S. Goldman, MS, MPhil1; Catarina Quinzii, MD2; Jane Dunning-Broadbent, PhD4; Cheryl Waters, MD2; Hiroshi Mitsumoto, MD2; Thomas H. Brannagan III, MD, DSc2; Stephanie Cosentino, PhD2; Edward D. Huey, MD2,3; Peter Nagy, MD, PhD4; Sheng-Han Kuo, MD2
[+] Author Affiliations
1Taub Institute for Research on Alzheimer’s Disease and the Aging Brain, Columbia University, New York, New York
2Department of Neurology, Columbia University, New York, New York
3Department of Psychiatry, Columbia University, New York, New York
4Department of Pathology and Cell Biology, Columbia University, New York, New York
JAMA Neurol. 2014;71(6):771-774. doi:10.1001/jamaneurol.2013.5762.
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Importance  Here we report a family with coexistence of multiple system atrophy (MSA) and amyotrophic lateral sclerosis (ALS) with hexanucleotide repeat expansions in C9orf72.

Observations  A 65-year-old woman had a 2-year history of ataxia with autonomic dysfunction but without motor neuron signs. She was diagnosed as having MSA based on her clinical history and the hot cross bun sign on brain magnetic resonance imaging. Her 62-year-old brother had progressive weakness, fasciculations, hyperreflexia, and active denervation on electromyography without cerebellar ataxia. He was diagnosed as having ALS. Both patients had a greater than 1000/2 hexanucleotide expansion in C9orf72.

Conclusions and Relevance  Patients with hexanucleotide repeat expansions in C9orf72 can present with MSA as well as ALS or frontotemporal dementia. We report this family with coexisting MSA and ALS, highlighting the phenotypic variability in neurologic presentations with hexanucleotide repeat expansions in C9orf72.

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Figure 1.
Brain Magnetic Resonance Imaging of the Proband With Ataxia

A, T2-weighted axial magnetic resonance image of the brain of the 65-year-old woman with ataxia showed marked cerebellar degeneration and the hot cross bun sign in the pons (arrowhead). B, T1-weighted sagittal magnetic resonance image of the brain revealed marked pontocerebellar atrophy.

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Figure 2.
Family Pedigree

The filled circle indicates multiple system atrophy; filled square, amyotrophic lateral sclerosis. Ages shown are ages at diagnosis.

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The 65-Year-Old Woman With Ataxia

The patient demonstrated scanning speech, dysmetria in the finger-nose test, slow and irregular rapid alternating movements, and irregular knee-shin slides. She also had Raynaud phenomenon in her hand and toes. While walking, she had wide-based gait and irregular footsteps, with short stride length and no heel strikes.

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