Parkinsonian-Pyramidal syndromes: A systematic review

Area of Science:

• Neuroscience
• Genetics
• Neurology

Background:

• Parkinsonian-Pyramidal syndrome (PPS) is a recently defined clinical concept.
• PPS can manifest in various inherited and non-inherited neurodegenerative diseases.
• Accurate diagnosis of PPS is crucial for clinical management, prognosis, genetic counseling, and potential treatments.

Purpose of the Study:

• To provide a comprehensive review of Parkinsonian-Pyramidal syndrome (PPS).
• To develop a diagnostic algorithm for PPS to assist in clinical practice.

Main Methods:

• Conducted an exhaustive literature search on PubMed and OMIM.
• Used keywords such as 'Parkinsonism and pyramidal signs' and 'Parkinsonism and spastic paraplegia'.
• Included English publications from the last ten years.

Main Results:

• Proposed a classification distinguishing inherited and non-inherited PPS.
• Included conditions like hereditary spastic paraplegia, young onset parkinsonism, and neurodegeneration with brain iron accumulation.
• Suggested diagnostic guidelines based on clinical and investigative findings.

Conclusions:

• PPS diagnosis requires a systematic approach considering inheritance patterns and clinical features.
• Common pathophysiological pathways include mitochondrial dysfunction, vesicular trafficking, and autophagy.
• The proposed algorithm aims to streamline the diagnostic process for PPS.