From the Guidelines
Hallervorden-Spatz syndrome, also known as Pantothenate Kinase-Associated Neurodegeneration (PKAN), is a rare autosomal recessive disease characterized by excess iron deposition in the basal ganglia with progressive neuronal degeneration.
Key Characteristics
- Annual incidence of 1/1,000 1
- Classically presents in the first decade with slowly progressive gait disturbances, dystonia, dysarthria, spasticity, and pyramidal tract signs 1
- NBIA type 1 is the most common subtype of Neurodegeneration with Brain Iron Accumulation (NBIA) 1
Diagnosis
- MRI is the preferred imaging modality for suspected NBIA due to its sensitivity to basal ganglia iron accumulation 1
- CT Head may be helpful to distinguish between calcium and iron deposition in the brain, but its utility is limited 1
- A combination of imaging techniques, including structural imaging and advanced MRI techniques, may be needed for complete evaluation of the patient 1
From the Research
Definition and Characteristics
- Hallervorden-Spatz syndrome (HSS), also known as pantothenate kinase-associated neurodegeneration (PKAN), is a rare inherited neurodegenerative disorder with childhood, adolescent, or adult onset 2.
- PKAN is characterized by a progressive movement disorder and prominent iron deposition in the globus pallidus 3.
- The disorder is associated with a combination of motor symptoms, including dystonia, parkinsonism, choreoathetosis, corticospinal tract involvement, optic atrophy, pigmentary retinopathy, and cognitive impairment 2.
Clinical Features
- Patients with PKAN may exhibit a range of clinical features, including misalignment of teeth, a high arched palate, hollow feet, slight cognitive decline, and apparent executive dysfunction 4.
- The presence of a mutation in the PANK2 gene is associated with younger age at onset and a higher frequency of dystonia, dysarthria, intellectual impairment, and gait disturbance 2.
- Parkinsonism is seen predominantly in adult-onset patients, whereas dystonia seems more frequent in earlier-onset cases 2.
Diagnosis and Imaging
- The characteristic MRI brain pattern of PKAN shows the "eye-of-the-tiger" sign 5.
- Brain perfusion single photon emission computed tomography (SPECT) may show decreased regional cerebral blood flow in the bilateral frontoparietal lobes, the globus pallidus, the striatum, and around the ventriculus quartus 4.