Freezing More than Gait: A Case Report of Freezing of Urination (FOU) in Parkinson's Disease.

Freezing of gait (FOG) is a disabling phenomenon that is described by patients with Parkinson's disease (PD). Not only gait may be involved in the freezing phenomenon, but also some nonmotor symptoms, such as freezing of urination (FOU) in this case. The characters of urinary dysfunctions in this case resemble "off" freezing: (1) abrupt difficulty in starting or continuing in urination; (2) the urinary dysfunctions fluctuated with medication state; and (3) the urinary dysfunctions could be alleviated dramatically by an external cueing. Urinary dysfunctions in this patient (and maybe more PD patients) are associated not only with the classical "nonmotor symptoms" but also the freezing phenomenon. FOU could be a part of the spectrum of freezing symptoms. The subtypes of the freezing phenomenon will shed light on the PD pathophysiology and clinical treatment.

[Progress of research on Maple syrup disease].

Maple syrup disease (MSUD) is a rare autosomal recessive disorder caused primarily by mutations of branched-chain keto acid dehydrogenase complex (BCKDC). BCKDC includes at least four pathogenic genes of BCKDHA, BCKDHB, DLD and DBT. The clinical manifestations of MSUD are complex, and the main symptoms at the early stage include difficulty in feeding, drowsiness, change in muscle tone and special urine flavor of maple syrup. As the disease progresses, convulsion, hypoglycemia, coma and systemic failure may occur. MSUD is easily missed or misdiagnosed during the neonatal period. This paper provides a review for recent progress made in research on MSUD including etiology, physiopathology, clinical manifestation, auxiliary examination and treatment, with a particular emphasis on genetic testing and treatment.