Summary of Psychiatric Symptoms

The neuropsychiatric symptoms of ChAc can be divided into two broad categories as summarized in Table 2. One is epilepsy-related symptoms like psychomotor seizures, seizure-related delirium or twilight state, and seizure-related intermittent dysphoria. Other symptoms can be grouped together as an organic brain syndrome (DSM III) or organic mental disorder (F0, ICD-10), which includes delirium, cognitive disturbances, personality change, obsessive-compulsive symptoms or stereo-typies,...

Elevation of Serum Creatine Kinase sCK

All ChAc cases except for Case 1 showed elevation of sCK of variable degrees, typically reaching at least 2- to 3-fold higher than the normal upper limit (Table 1). sCK elevation was thought to be derived from secondary degeneration of skeletal muscle tissue and or violent choreiform movements of the limbs 25 . However, marked elevation of sCK was noted in Case 12 who did not have neurogenic changes on electrophysiological or conventional pathological studies, in Case 8 without muscular...

Neuropathological Findings

On macroscopic inspection of the cerebral hemi spheres, gyri, sulci and leptomeninges and leptomeningeal blood vessels were normal as were the cranial nerve roots, the brainstem and the cerebellum. An aneurysm of 3 mm diameter was found arising from the anterior communicating artery on the right into the interhemispheric fissure. No herniations were present. Coronal sections showed normal cortex and white matter of the cerebral hemispheres. Except for the...

Heart Rate Response to Deep Breathing HRDB

The HRdb is an indirect test of cardiovagal function and may be the most important of the HR responses since both efferent and afferent pathways are vagal. During deep breathing, the heart rate increases toward the end of inspiration and slows toward the end of expiration (HRdb). Such HR variations are dependent on an intact vagus nerve. It has been suggested that a HRdb measurement is more sensitive than the Valsalva ratio and is useful and sufficiently reproducible for early detection of...

The Band 3 Network in Acanthocytosis

Using an antibody against the cytoplasmic domain of band 3, we found specific immunoblot patterns in the membrane fractions of erythrocytes from patients with ChAc, MLS and HDL2 (Fig. 1). Aberrant immunoblot patterns were also obtained with anti-Diego and anti-phosphotyrosine antibodies 6 . These data suggest that the presence of acanthocytes in patients with various forms of NA is associated with, as well as characterized by, specific changes in the conformation of band 3 5 . Based on...

Blood Donors with McLeod Phenotype

More than 300 antigens are recognized on the red cell surface and can be classified into 4 separate categories these are 29 genetically determined systems, 6 collections of related antigens, and the series of lo w incidence (700 series) and high incidence Japanese Red Cross Osaka Blood Center, 2-4-43, Morinomiya Joto-ku, Osaka, 536-8505, Japan, tani osaka.bc.jrc.or.jp (901 series) antigens 2 . Among the 29 systems (Table 1), red cells which lack XK protein on the cell surface are called McLeod...

Discussion

These preliminary data obtained on a small series of patients reveal that functional surgery might be a useful tool in the treatment of choreatic and dystonic symptoms in NA syndromes. The clinical outcome of pallidotomy in patient 1 was partial, however, his lingual dyskinesia and involuntary trunk movements improved and self-biting disappeared. After the surgery, he was able to eat and stand with less assistance, although still with difficulty. The clinical outcome of pallidotomy in patient 2...

Muscular Aspects of Chorea Acanthocytosis

226 2.1 Clinical Neuromuscular 226 2.2 Elevation of Serum Creatine Kinase 227 229 229 234 236 Abstract We report new insights into muscular aspects in chorea-acanthocytosis (ChAc), a hereditary disease characterized by involuntary movements and amyotrophy with elevation of serum creatine kinase (sCK). In addition, we review the literature regarding muscular aspects of genetically-confirmed ChAc cases. All ChAc cases, except for one, showed sCK elevation, while clinical neuromuscular symptoms...

Autosomal Dominant Inheritance

The most important cause of genetic chorea is Huntington's disease (HD), a neurodegenerative autosomal dominant disorder due to mutation of the huntingtin gene (htt IT15) on chromosome 4 1 . HD is due to expansion of a physiological poly-glutamine stretch which ranges from 27 to 35 in healthy individuals. Penetrance is incomplete with between 36 and 39 repeats, and individuals may or may not develop disease. Ranges of 40 or more repeats eventually cause HD, and the longer the stretch the more...

Autosomal Recessive Forms of Chorea

2.2.1 Pantothenate Kinase-Associated Neurodegeneration PKAN Hallervorden and Spatz 54 first described five sisters with progressive dysarthria and dementia in 1922. Extrapyramidal symptoms dominate, particularly generalized dystonia with oromandibular involvement and parkinsonism, in addition to spasticity, behavioral changes followed by dementia, and pigmentary retinal degeneration, usually with onset in childhood 58 . However, chorea as the main feature has also been reported in a late...