9 rezultatet
Neuroacanthocytosis is a group of rare disorders. We report a 36-year-old right-handed female who presented with gradually progressive abnormal facial movements, generalized weakness, and lower-lip biting starting 4 years ago. On examination, she had lower-lip ulcer, orofacial dyskinesias, and
We report a patient of chorea-acanthocytosis (CA), presenting with dilated cardiomyopathy and myopathy. The patient, 40-year-old male, was seen in our clinic because of progressive gait disturbance. Neurologically, he had chorea, tic, dystonia, diminished tendon reflexes and mild muscular atrophy
The shapes of acanthocytic erythrocytes have been thought to be related to changes of the organization of the membrane components. In this study, acanthocytes from a patient with chorea-acanthocytosis and a patient with McLeod syndrome were examined. These acanthocytes had a greater tendency to form
Neuroacanthocytosis (NA) comprises a genetically heterogeneous group of disorders characterized by dysfunction of the erythrocyte membrane, presenting with acanthocytes and several neurological manifestations. We report the case of a 42-year-old woman with NA who in addition had episodes consistent
We report the first case of McLeod syndrome (MLS) in a 47-year-old Chinese man who presented with progressive limb weakness, chorea of feet, red blood cell acanthocytosis, absence of Kx red blood cell antigen and weak expression of Kell antigens. The diagnosis of MLS was confirmed by genetic testing
A 52-year-old man was admitted to our hospital in 1997 because of high serum creatine kinase (CK) level. Neurologic findings revealed chorea on the trunk and extremities, mild weakness of proximal muscles, and absence of deep tendon reflexes in four extremities. Serum CK was elevated to 3,494 U/l
Chorea-acanthocytosis (ChAc), a neurodegenerative disease, results from loss-of-function-mutations of the chorein-encoding gene VPS13A. Affected patients suffer from a progressive movement disorder including chorea, parkinsonism, dystonia, tongue protrusion, dysarthria, dysphagia, tongue and lip
The X-linked McLeod syndrome is defined by absent Kx red blood cell antigen and weak expression of Kell antigens, and this constellation may be accidentally detected in routine screening of apparently healthy blood donors. Most carriers of this McLeod blood group phenotype have acanthocytosis and
The X-linked McLeod neuroacanthocytosis syndrome (MLS) has originally been denoted as 'benign' McLeod myopathy. We assessed the clinical findings and the muscle pathology in the eponymous index patient, Hugh McLeod, and in nine additional MLS patients. Only one patient had manifested with