Irreversible extreme freezing of gait after dopamine agonist withdrawal.

Dopamine agonist withdrawal can cause freezing of gait in PD patients.

A novel homozygous variation in the PANK2 gene in two Persian siblings with atypical pantothenate kinase associated neurodegeneration.

Pantothenate Kinase-associated Neurodegeneration (PKAN) is an autosomal recessive disorder that is caused by variation in pantothenate kinase-2 gene (PANK2) gene on chromosome 20. The common presentation of this disease includes progressive dystonia, Parkinsonism, retinopathy, cognitive impairment, and spasticity. The typical magnetic resonance imaging finding is eye of the tiger sign in globus pallidus and not pathogenic and not found in all patients. In the present study, we describe two siblings who have a novel variation of the PANK2 gene. These patients with the same genotype, have different ages at the onset of disease and also the various severity of the disease. The description of these cases helps to understand this disease, its symptoms, pathogenesis, and its treatment.

Stiff person case misdiagnosed as conversion disorder: A case report.

BACKGROUND: Stiff person syndrome (SPS) is a rare neurological disease resulting in stiffness and spasm of muscles. It initially affects the axial muscles and then spread to limb muscles. Emotional stress exacerbated the symptoms and signs of the disease. The pathophysiology of the disease is caused by the decreased level of the glutamic acid decarboxylase (GAD) activity due to an autoantibody against GAD that decreases the level of gamma-aminobutyric acid (GABA). In this paper, we present a case of atypical presentation of SPS with lower limb stiffness misdiagnosed as conversion disorder. CASE PRESENTATION: We report a patient with atypical presentation of SPS with lower limb stiffness and gait disorder misdiagnosed as conversion disorder for a year. Her antithyroid peroxidase antibody (anti-TPO Ab) level was 75 IU (normal value: 0-34 IU). Intravenous immunoglobulin (IVIG) was administered (2gr/kg, 5 days) for the patient that showed significant improvement in the follow-up visit. CONCLUSION: It is essential that in any patient with bizarre gait disorder and suspicious to conversion disorder due to the reversibility of symptoms, SPS and other movement disorder should be considered.