No abstract available.
Abetalipoproteinemia ; Humans ; Neuroacanthocytosis

No abstract available.
Abetalipoproteinemia ; Humans ; Neuroacanthocytosis

Abetalipoproteinemia ; Cilia ; Humans ; Kartagener Syndrome

Chorea-acanthocytosis (ChAc) is a rare hereditary disorder characterized by involuntary choreiform movements and erythrocytic acanthocytosis. Pharmacotherapy for control of involuntary movements has generally been of limited benefit. Deep brain stimulation (DBS) has recently been used for treatment of some refractory cases of ChAc. We report here on the effect of bilateral high-frequency DBS of globus pallidus interna in a patient with ChAc.
Abetalipoproteinemia ; Chorea ; Deep Brain Stimulation* ; Drug Therapy ; Dyskinesias ; Globus Pallidus* ; Humans ; Neuroacanthocytosis*

McLeod syndrome is a rare X-linked multisystem disorder which forms the core of neuroacanthocytosis syndrome. Neurological symptoms characterized by chorea, seizure, cognitive impairment, and psychosis mostly develop around the 5-6th decades, accompanied by multisystem involvement comprising neuropathy, myopathy, acanthocytosis and hepatosplenomegaly. We hereby present a 60-year-old male who is the first genetically confirmed Korean McLeod syndrome patient. Genetic analysis of his XK gene revealed a previously reported 5 base pair deletion of exon 3 (c.856_860delCTCTA).
Abetalipoproteinemia ; Base Pairing ; Chorea ; Cognition Disorders ; Exons ; Humans ; Korea* ; Male ; Middle Aged ; Muscular Diseases ; Neuroacanthocytosis ; Psychotic Disorders ; Seizures

Spasmodic dysphonia Is a form of focal dystonia affecting laryngeal muscles. There have been a few reports on the neurological aspects of the patient with spasmodic dysphonia. No data on the clinical courses and possible causative neurological diseases have been reported. We analysed 44 patients with spasmodic dysphonia, using a check-list of clinical symptoms and laboratory tests in a prospective manner, Forty one patients had adductor type of spasmodic dysphonia and three patients had abductor type. Five different clinical courses have been identified ; about half of the patients showed relentless progress of symptoms for many years(range 1-26 years ; mean 9.8 years). Magnetic resonance imaging study of the brain showed abnormalities in three patients(2 had a focal lesion in the basal ganglia and 1 had multiple cerebral infarctions). One showed acanthocytosis on electron-microscopic examination of the peripheral blood smear. Navicular tremor, low facial dyskinesla, and development of other involuntary movement at the time of onset of spasmodic dysphonia may be clues suggestive of symptomatic form of spasmodic dysphonia.
Abetalipoproteinemia ; Basal Ganglia ; Brain ; Dyskinesias ; Dysphonia* ; Dystonic Disorders ; Humans ; Laryngeal Muscles ; Magnetic Resonance Imaging ; Prospective Studies ; Tremor

Objective: To summarize the genotypes and clinical characteristics of homozygous family hypobetalipoproteinemia (Ho-FHBL) caused by apolipoprotein B (APOB) gene variations. Methods: The clinical, laboratory, genetic, and liver histology data of a boy with Ho-FHBL managed in the hepatology ward of the Children's Hospital of Fudan University in May 2021 were retrospectively analyzed. The literature was searched from China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform, China VIP database, China Biology Medicine disc and PubMed database (up to May 2022) with "familial hypobetalipoproteinemia" or "hypobetalipoproteinemias" or "hypo beta lipoproteinemia" or "hypolipoproteinemias" as the search terms. All relevant literatures were reviewed to summarize the clinical and genetic features of Ho-FHBL caused by APOB gene variations. Results: The male patient was admitted to the hospital due to abnormal liver function tests for 8 months at the age of 4 years and 6 months. Blood biochemistry showed transaminitis and abnormally low serum levels of lipids. Liver biopsy revealed fatty liver with inflammation and early cirrhosis (Brunt score was F3G2S4). Whole exome sequencing revealed two novel variants of APOB gene (c.3745C>T, p.Q1249 * from the father and c.4589_4592delinsAGGTAGGAGGTTTAACTCCTCCTACCT, p.T1530Kfs * 12 from the mother). He was diagnosed as Ho-FHBL caused by APOB gene compound heterozygous variations. Literature search retrieved 36 English literatures and 0 Chinese literature. A total of 55 (23 males and 32 females) Ho-FHBL cases, including this one, were caused by 54 APOB gene pathogenic variants (23 frameshift, 15 nonsense, 7 missense, 8 splice and 1 gross deletions). The age of the last follow-up was between 1 month and 75 years. Among them, 28 cases had lipid malabsorption, 19 cases had early dysplasia, 12 cases had no symptoms. Twenty-one patients had symptoms related to fat soluble vitamin deficiency, including 14 cases of acanthocytosis, 10 cases of neurological symptoms, and 6 cases of ocular lesions. Thirty-four patients had liver involvement, including 25 cases of elevated transaminase, 21 cases of fatty liver, 15 cases of hepatomegaly, 9 cases of liver fibrosis, 3 cases of liver cirrhosis, 1 case of hepatic hemangioma and 1 case of liver neoplastic nodule. Conclusions: The variants of APOB gene in Ho-FHBL are mainly frameshift and nonsense variations. Patients may have lipid malabsorption and (or) early dysplasia, or symptom-free. Liver involvement is common.
Child ; Female ; Humans ; Male ; Child, Preschool ; Infant ; Abetalipoproteinemia/diagnosis* ; Retrospective Studies ; Hypobetalipoproteinemias/diagnosis* ; Fatty Liver/genetics* ; Apolipoproteins B/genetics* ; Lipids

Neuroacanthocytosis is a rare hereditary disorder characterized by various neurological symptoms and the presence of abnormal red blood cell called acanthocytosis. Degeneration of striatum, which accounts for characteristic motor and psychiatric symptoms, mainly attributes to the pathology of neuroacanthocytosis. We experienced a case of chorea-acanthocytosis. He was a 50 year-old-man who presented with orofacial dyskinesia, dysarthria, uncontrolled lip biting, generalized choreic movements and sensorymotor polyneuropathy. He was also suffered from obsessive eating behavior, disinhibition, impulsivity and sleep disturbance. After antipsychotic medication, his psychiatric problems were improved. Clinicians must consider psychiatric managements of progressive neurological disorder for patients' quality of life and reducing their caregiver's burden.
Abetalipoproteinemia ; Antipsychotic Agents ; Bites and Stings ; Chorea ; Dysarthria ; Erythrocytes ; Feeding Behavior ; Humans ; Lip ; Movement Disorders ; Nervous System Diseases ; Neuroacanthocytosis ; Polyneuropathies ; Quality of Life

We have experienced a family case of 3 sisters in whom the proband showed a complete form of the choreo-acanthosytosis. 439-year-old female proband was admitted because of frequent seizures. She was alert, well-oriented, and had no gross memory defects. She had slurred speech, choreic movements of chin. Deep tendon reflexes on the both lower extremities were decreased. Laboratory examination showed acanthocytes in her peripheral red blood cells, normal serum lipid values, increased creatine-phosphokinase levels and bilateral caudate atrophy on her brain CT scan. Electrophysiological data were consistent with lower motor neuron dysfunction. Another 33-year-old sister with frequent seizures and psychic problems also showed acanthocytosis. The other 36-year-old sister has been treated under the diagnosis of schizophrenia for 10 years, not showing acanthocytosis.
Abetalipoproteinemia ; Acanthocytes ; Adult ; Atrophy ; Brain ; Chin ; Chorea ; Diagnosis ; Erythrocytes ; Female ; Humans ; Lower Extremity ; Memory ; Motor Neurons ; Neuroacanthocytosis* ; Reflex, Stretch ; Schizophrenia ; Seizures ; Siblings ; Tomography, X-Ray Computed

Neuroacanthocytosis is a rare dosorder characterized by various neurological manifestations and the presence of abnormal red blood cells called acanthocytes which have a disturbed morphology showing spiky, knobby end projections. Acanthocytosis associated with neurological involvements includes 3 major syndromes ; Bassen-Korzweig syndrome, choreoacanthocytosis (or Levine-Critchley syndrome), and Mcleod syndrome. Here, we report two cases of familial choreoacanthocytosis. A 40 years old man presented with orofacial dyskinesia, involuntary vocalization, dysarthria, dysphagia, generalized choreic movements, hyporef lexia, and amyotrophy of the bilarteral anterior tibilais muscles. Serum creatine phosphokinase was increased. Scanning electronmicroscopic examination of the fresh peripheral blood smear film showed acanthocytes, corresponding to about 6% of all red blood cells. His one of two daughter had high arched foot, bradykinesia, and hypoactive deep tendon reflexes. A 70 years old woman showed head and hand tremor, bilateral eye brow choreic movements, torticollis and bradykinesia. Her mother and two younger sisters had head termor. Serum creatine phosphokinase level was normal. Scanning electronmicroscopic examination of the fresh peripheral blood smear showed acnthocytes, corresponding to 9% of the examined red blood cells.
Abetalipoproteinemia ; Acanthocytes ; Adult ; Aged ; Chorea ; Creatine Kinase ; Deglutition Disorders ; Dysarthria ; Erythrocytes ; Female ; Foot ; Hand ; Head ; Humans ; Hypokinesia ; Mothers ; Movement Disorders ; Muscles ; Neuroacanthocytosis* ; Neurologic Manifestations ; Nuclear Family ; Reflex, Stretch ; Siblings ; Torticollis ; Tremor