Aging-Related Catatonia with Reversible Dopamine Transporter Dysfunction in Females with Depressive Symptoms: A Case Series.

Objectives: The authors describe five depressive patients with initially decreased striatal accumulation of dopamine transporter (DAT) single-photon emission computed tomography (SPECT), which improved in parallel with clinical symptoms.

Methods: Patients who exhibited decreased striatal accumulation and recovery of DATSPECT were identified among patients with the symptoms of depression. Their clinical and neuroimaging data were reviewed.

Association of auditory Charles Bonnet syndrome with increased blood flow in the nondominant Brodmann area 22.

Aim: Auditory Charles Bonnet syndrome (aCBS) is characterized by musical hallucinations (MHs) that accompany acquired hearing impairments. This hallucination is the acoustic perception of music, sounds, or songs in the absence of an outside stimulus, and it may be associated with hyperactivity of the superior temporal lobes. Some studies have reported the possibility of improving MH with antiepileptics.

Sleep Disorders in Four Patients With Myotonic Dystrophy Type 1.

Sleep disturbances such as excessive daytime sleepiness, central and obstructive sleep apneas, restless legs syndrome, and rapid eye movement sleep dysregulation are prominent in patients with myotonic dystrophy type 1 (DM1). Mild intellectual deficits presented in many patients with DM1. In addition, psychosocial issues caused by neuropsychiatric symptoms are a clinical problem.

Different clinical phenotypes in siblings with a presenilin-1 P264L mutation.

Background: Mutations in the presenilin-1 gene (PSEN1) have been identified in autosomal dominant early-onset cases of Alzheimer's disease (AD).

Aims: To investigate different clinical phenotypes of siblings possessing the same heterozygous P264L mutation in the PSEN1 gene.

Methods: We evaluated clinical features, neuroimaging results, and neuropsychological examinations.

Familial semantic dementia with P301L mutation in the Tau gene.

Background/aims: Semantic dementia (SD) is a clinical subclassification of frontotemporal lobar degeneration. Patients with 'pure SD' present with semantic memory impairment preceding the frontal symptoms, and there have been no reports of familial cases.

Methods: We evaluated the clinical features of, and performed neuropsychological examinations on, the proband and two affected family members.

Adult-type metachromatic leukodystrophy with compound heterozygous ARSA mutations: a case report and phenotypic comparison with a previously reported case.

Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease caused by a deficiency of arylsulfatase A. MLD is a heterogeneous disease with variable age at onset and variable clinical features. We evaluated a 33-year-old female patient who developed manifestations of disinhibitory behavior.