Clinical Guidance

No correlation between the type of variant and age at onset, clinical presentation, or disease progression has yet been observed. Modifiers. Recently, it has been shown that somatic mitochondrial variant load is a disease-onset modifier for PINK1 (and Parkin) type of young-onset Parkinson disease.

Source: GeneReviews — "PINK1 Type of Young-Onset Parkinson Disease"

Penetrance

Biallelic PINK1 pathogenic variants are considered fully penetrant . Penetrance of heterozygous variants is under debate .

Source: GeneReviews — "PINK1 Type of Young-Onset Parkinson Disease"

Diagnostic Criteria

Updated guidelines on the molecular diagnosis of Parkinson disease were provided in a joint effort by the European Federation of Neurological Societies (EFNS), the European Section of the International Parkinson and Movement Disorders Society (MDS-ES), and the European Neurological Society (ENS) . Some national societies have also published guidelines on the molecular diagnosis of Parkinson disease, such as the German Society for Neurology. In addition, new diagnostic criteria using a biological classification referred to as SynNeurGe have been published .

Source: GeneReviews — "PINK1 Type of Young-Onset Parkinson Disease"

Differential Diagnosis

Clinically, PINK1 type of young-onset Parkinson disease and idiopathic Parkinson disease are difficult to differentiate (see Parkinson Disease Overview). More than 80% of individuals with Parkinson disease have no family history of the disorder. A monogenic cause of Parkinson disease can be identified in some individuals with a positive family history or a young age at disease onset. Early-onset autosomal recessive Parkinson disease. PINK1 type of young-onset Parkinson disease and early-onset Parkinson disease of other etiologies are difficult to distinguish by clinical examination. Table 3. Genes Associated with Early-Onset Autosomal Recessive Parkinson Disease in the Differential Diagnosis of PINK1 Type of Young-Onset Parkinson Disease

Management Guidelines

No clinical practice guidelines specifically for PINK1 type of young-onset Parkinson disease have been published. Some national societies (e.g., the German Society for Neurology) recommend treating PINK1 type of young-onset Parkinson disease similar to Parkinson disease of unknown cause. In the absence of internationally published guidelines, the following recommendations are based on the authors' personal experience managing individuals with this disorder. Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with PINK1 type of young-onset Parkinson disease, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 4. PINK1 Type of Young-Onset Parkinson Disease: Recommended Evaluations Following Initial Diagnosis

Source: GeneReviews — "PINK1 Type of Young-Onset Parkinson Disease"

Clinical Guidance

Neuroleptic treatment may exacerbate parkinsonism.

Source: GeneReviews — "PINK1 Type of Young-Onset Parkinson Disease"

Therapies Under Investigation

Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Source: GeneReviews — "PINK1 Type of Young-Onset Parkinson Disease"

Surveillance Guidelines

Table 6. PINK1 Type of Young-Onset Parkinson Disease: Recommended Surveillance

Source: GeneReviews — "PINK1 Type of Young-Onset Parkinson Disease"