Spastic Paraplegia Type 7 and Movement Disorders: Beyond the Spastic Paraplegia.

Area of Science:

• Genetics
• Neurology
• Movement Disorders

Background:

• Spastic paraplegia type 7 (SPG7) is a genetic disorder.
• SPG7 mutations can manifest as pure spastic paraplegia or a complex phenotype.
• The complex phenotype includes various movement disorders.

Purpose of the Study:

• To describe the key features of individuals with SPG7 mutations presenting with movement disorders.
• To expand the understanding of the motor phenotype associated with SPG7.

Main Methods:

• Analysis of clinical and paraclinical data from affected subjects.
• Identification and characterization of SPG7 variants.

Main Results:

• Sixteen subjects from 11 families were studied, with a male predominance.
• The mean age of onset was 41.25 years.
• Cerebellar syndrome was the most common movement disorder (7/16), followed by parkinsonism (2/16) and dystonia (1/16).
• The "ears of the lynx" sign was observed in four subjects.
• Nine SPG7 variants were identified, with c.1529C>T (p.Ala510Val) being the most frequent.

Conclusions:

• This case series broadens the known motor phenotype of SPG7 mutations.
• Clinicians should consider SPG7 in patients with unexplained movement disorders, especially in familial cases.