TY - JOUR
T1 - Pearls & Oy-sters
T2 - Deep Phenotyping of Abnormal Eye Movements Advances the Detection of Gerstmann-Sträussler-Scheinker Syndrome
AU - Paul, Ashley M.
AU - Mu, Weiyi
AU - Butala, Ankur
AU - Green, Kemar E.
N1 - Publisher Copyright:
© American Academy of Neurology.
PY - 2022/11/22
Y1 - 2022/11/22
N2 - A 58-year-old previously healthy woman presents with 3 years of rapidly progressive ataxia, parkinsonism, dysautonomia, peripheral neuropathy, leg weakness, spasticity, hyperreflexia, and mild vertical-gaze palsy. She has a matrilineal family history of neurodegenerative diseases. She was initially postulated to have spinocerebellar ataxia or atypical parkinsonism with cerebellar features. However, on closer inspection, her abnormal extraocular eye movements suggested rare mimicking disorders such as prion disease as part of the differential diagnosis, requiring further evaluation. This case highlights how deep phenotyping can open new diagnostic considerations, inform additional workup, and yield the precise diagnosis of Gerstmann-Sträussler-Scheinker syndrome (GSS).
AB - A 58-year-old previously healthy woman presents with 3 years of rapidly progressive ataxia, parkinsonism, dysautonomia, peripheral neuropathy, leg weakness, spasticity, hyperreflexia, and mild vertical-gaze palsy. She has a matrilineal family history of neurodegenerative diseases. She was initially postulated to have spinocerebellar ataxia or atypical parkinsonism with cerebellar features. However, on closer inspection, her abnormal extraocular eye movements suggested rare mimicking disorders such as prion disease as part of the differential diagnosis, requiring further evaluation. This case highlights how deep phenotyping can open new diagnostic considerations, inform additional workup, and yield the precise diagnosis of Gerstmann-Sträussler-Scheinker syndrome (GSS).
UR - http://www.scopus.com/inward/record.url?scp=85142403668&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85142403668&partnerID=8YFLogxK
U2 - 10.1212/WNL.0000000000201321
DO - 10.1212/WNL.0000000000201321
M3 - Article
C2 - 36127142
AN - SCOPUS:85142403668
SN - 0028-3878
VL - 99
SP - 957
EP - 961
JO - Neurology
JF - Neurology
IS - 21
ER -