Objective: To describe a case-series of Parkinsonian multiple system atrophy (MSAp) firstly diagnosed with Parkinson’s disease (PD) due to clear-cut and severe l-dopa-induced motor fluctuations (MFs).

Background: Poor l-dopa response, early dysautonomia and short time to disability are clues favouring MSAp over PD. However, a long-survival variant with delayed dysautonomia and cases with some l-dopa responsiveness and early MFs have been described. Still, there is paucity of data about MSAp with MFs.

Methods: Clinico-pathological report of 5 cases (2 neuropathologically confirmed).

Results: Five cases (four men; two= definite MSAp [one reported previously], two= probable MSAp, one= possible MSAp) were identified. Age at onset ranged from 39 to 55 (<50 in 4 of them). Four (including the pathologically confirmed) cases presented with unilateral rest tremor. Wearing-off, delayed on, early morning akinesia and peak-dose dyskinesias appeared 1 to 6 years after l-dopa initiation (3 to 8 years after onset of parkinsonism). Upon referral to our Unit, l-dopa challenge resulted in 41 to 49% improvement (with unassisted gait while on). Accordingly, one of the pathological cases underwent deep brain stimulation, and the other pathological case and one of the clinical cases received continuous intestinal l-dopa infusion. All three cases improved significantly but both cases with pathological confirmation did so only transiently, as they died shortly after due to disease-related complications. Dysautonomia occurred in four patients (including one of the pathologically confirmed), ≥5 years after parkinsonism in three of them. None ever had cerebellar signs. Yet, three featured the hot-cross bun sign on follow-up brain MRI (including one of the neuropathologically proven cases); only one had the putaminal rim sign. One had stridor; two REM behaviour disorder. Two of the clinically diagnosed cases developed impulse control disorders under dopamine-agonists. In both cases with neuropathological assessment striatal sparing relative to prominent nigral degeneration was noted, along with severe olivopontocerebellar involvement.

Conclusions: Young age at onset, early occurrence of MFs, cerebellar rather than striatal findings on follow-up MRI and greater nigral than striatal degeneration in both cases with pathological confirmation, were the main features in these MSAp cases with MFs, which might represent a presynaptic disease variant.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/multiple-system-atrophy-with-motor-fluctuations-a-presynaptic-disease-variant/