Clinical findings and diagnosis in genetic XXXX in Germany.

@entity1 @entity227 @entity70678 @entity31967 @entity13896 @entity303 @entity2055 @entity16 @entity1579 @entity854 @entity2026 @entity70480 @entity16616 @entity50407
UNASSIGNED: To describe the clinical syndrome and diagnostic tests in @entity1 with genetic @entity1579 (gPD) in Germany. Clinical features, MRI, EEG, and CSF markers were studied in 91 @entity1 (28 @entity50407 , 20 @entity13896 , 17 inserts, 13 @entity70678 , 8 @entity31967 , 5 @entity70480 ). @entity303 (35  %) and @entity2055 (29  %) were the most common initial symptoms and signs. A wide variety and high frequency of @entity16 and signs was found during disease course in all @entity1 independently of the type of the mutation. Psychiatric manifestations were frequent (87  %). @entity854 were observed in 67  %, and @entity2026 was the most common disturbance (45  %). In @entity13896 , @entity70678 and @entity50407 @entity1 , @entity227 were followed by @entity2055 . @entity303 followed by @entity2055 at onset was common in @entity1 with insert and @entity70480 mutation. @entity31967 @entity1 had @entity2055 over a longer time period followed by pyramidal signs. @entity303 was present only late in the disease course. All clinical routine tests such as MRI, EEG and CSF tests were less sensitive than in @entity16616 . We provide the first detailed analysis of clinical signs and symptoms in a large group of @entity1 with gPD. Frequency of clinical symptoms and signs was similar in different mutations in a later disease course, but the sequence of occurrence may be of great diagnostic importance. CSF markers were shown to be more sensitive than MRI and EEG.
