Clinical Guidance

The spectrum of DCTN1-related neurodegeneration includes Perry syndrome, distal hereditary motor neuronopathy type 7B (dHMN7B), frontotemporal dementia (FTD), motor neuron disease / amyotrophic lateral sclerosis (ALS), and progressive supranuclear palsy. Some individuals present with overlapping phenotypes (e.g., FTD-ALS, Perry syndrome-dHMN7B) . In most families, the phenotype is consistent among affected family members. However, not infrequently, the same DCTN1 pathogenic variant may manifest with a different clinical phenotype even within the same family.

Diagnostic Criteria

Suggestive Findings

DCTN1-related neurodegeneration should be suspected in individuals with any combination of the following clinical features, family history of the following features, or neuroimaging findings.

Clinical findings

• Parkinsonism

• Mood/personality/cognitive changes (depression, apathy, withdrawal, disinhibition, dementia)

Management Guidelines

Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with DCTN1-related neurodegeneration, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 3. Recommended Evaluations Following Initial Diagnosis in Individuals with DCTN1-Related Neurodegeneration

Surveillance Guidelines

Evaluate weight and calorie intake, respiratory function (particularly at night or during sleep), motor function, and mood/personality changes annually or more frequently as needed.

Source: GeneReviews — "DCTN1-Related Neurodegeneration"