Clinical, neuroimaging and gene mutation characteristics of McLeod syndrome and literature review / 中华神经科杂志

Objective:To study the characteristics of clinical, laboratory, imaging, genetic and differential diagnosis of McLeod syndrome.Methods:The clinical characteristics of 2 cases of McLeod syndrome confirmed by gene detection in Qilu Hospital (Qingdao) on June 27, 2018 and in Qilu Hospital of Shandong University on September 11, 2019 were analyzed retrospectively. And the characteristics of patients of McLeod syndrome reported in China were analyzed in combination with literature review.Results:Both of the 2 patients were adult male, aged 57 and 61 years, respectively, with a slowly progressive course, beginning with gradually involuntary movement of trunk and extremities, involving involuntary biting of the tongue and dysphagia. Two patients had mild cognitive impairment; one patient had emotional agitation. Imaging study showed atrophy of caput nuclei caudate. Neuroelectrophysiological examination of case 1 showed sensory axon neuropathy in both upper limbs with severe damage to the left ulnar nerve. Creatine kinase (CK) was mildly elevated in 2 patients. The peripheral blood smear of 1 patient showed increased acanthocytes, accounting for 13%, the other patient showed no increased acanthocyte. McLeod syndrome related gene was tested in the 2 patients, case 1 with deletion mutation of exon 2 of XK gene, and case 2 with hemizygotic mutation of XK gene c.898delC p.L300 *. Conclusions:The clinical manifestations of McLeod syndrome are various and the differential diagnosis is crucial. For elderly male with cephalic facial chorea, elevated CK level and neuromuscular diseases, the possibility of McLeod syndrome should be screened.

Neurochemistry of striatum in chorea-acanthocytosis / 中华神经科杂志

Objective To investigate the striatum neurochemistry in chorea-acanthocytosis(ChAc).Methods The brain samples of autopsy from 4 ChAc patients , 2 Huntington disease patients and 4 normal controls were collected.Immunostainings of enkephalin, substance P, glutamic acid decarboxylase (GAD) and Calbindin-D28k were carried out.Softwares were used to perform image and statistical analyses.Results In ChAc patients , the stainings of enkephalin , substance P and GAD were decreased , while the staining of Calbindin-D28k was increased.In comparison with normal controls , the staining of encephalin in the external segment of globus pallidus (16%(4%) vs 20%(1%),Mann-Whitney U test,Z=-2.337, P=0.029) and the stainings of substance P (12%(3%) vs 22%(1%),Mann-Whitney U test,Z=-2.352, P=0.029 ) and GAD in the internal segment of globus pallidus ( 25% ( 11%) vs 33%( 4%) , Mann-Whitney U test, Z =-2.323, P =0.029 ) were decreased in ChAc patients.Conclusions In ChAc patients, the decrease of substance P was more obvious than encephalin.The increase of Calbindin-D28k may be a protective compensation for the neuron damage.

Chronic granulomatous disease and Mcleod syndrome caused by continuous X chromosome deletion：a report of two cases and literature review / 临床儿科杂志

Objective To explore the clinical features of chronic granulomatous diseases and Mcleod syndrome caused by continuous X chromosome deletion. Methods The clinical data of two children diagnosed as chronic granulomatous disease and Mcleod syndrome by gene detection were retrospectively analyzed. Results Two males, 4 year 1 month and 1 year 9 month old, were both hospitalized due to persistent pulmonary infections. Both of them had a history of repeated severe infections and BCG vaccine associated lymphadenitis, and were diagnosed as X-linked chronic granulomatous disease for respiratory burst defects and deletion of all CYBB exons. Both of them had retarded motor development, and were diagnosed as DMD for detection of DMD gene exons and muscle speciifc promoter region and exon 1-2 deletion by MLPA. One case was found with obvious echinocytes, the other case showed whole exons deletion of XK gene. Both of them were diagnosed as Mcleod syndrome. Conclusion Continuous X chromosome deletion could lead to combination of Mcleod syndrome, DMD, and X-CGD, which may complicate the condition. Due to the lack of Kx antigen, repeated common blood transfusion can produce relative antibody, which lead to severe hemolytic crisis.

Globus Pallidus Interna Deep Brain Stimulation for Chorea-Acanthocytosis

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.

Clinical and genetic analysis of 29 Brazilian patients with Huntington's disease-like phenotype / Análise clínica e genética em 29 pacientes Brasileiros com fenótipo doença de Huntington-símile

Huntington's disease (HD) is a neurodegenerative disorder characterized by chorea, behavioral disturbances and dementia, caused by a pathological expansion of the CAG trinucleotide in the HTT gene. Several patients have been recognized with the typical HD phenotype without the expected mutation. The objective of this study was to assess the occurrence of diseases such as Huntington's disease-like 2 (HDL2), spinocerebellar ataxia (SCA) 1, SCA2, SCA3, SCA7, dentatorubral-pallidoluysian atrophy (DRPLA) and chorea-acanthocytosis (ChAc) among 29 Brazilian patients with a HD-like phenotype. In the group analyzed, we found 3 patients with HDL2 and 2 patients with ChAc. The diagnosis was not reached in 79.3 percent of the patients. HDL2 was the main cause of the HD-like phenotype in the group analyzed, and is attributable to the African ancestry of this population. However, the etiology of the disease remains undetermined in the majority of the HD negative patients with HD-like phenotype.

A doença de Huntington (DH) é uma doença neurodegenerativa caracterizada por coréia, alterações comportamentais e demência, causada por uma expansão patológica do trinucleotídeo CAG no gene HTT. Vários pacientes têm sido descritos com o fenótipo típico para a DH porém sem a mutação esperada. O objetivo deste estudo foi avaliar a ocorrência de doenças como doença de Huntington-símile 2 (DHS-2), ataxias espinocerebelares tipo 1, 2, 3 e 17, atrofia dentatorubral-palidoluisiana e coreo-acantocitose (CAc) entre 29 pacientes brasileiros com fenótipo doença de Huntington-símile. No grupo analisado, encontramos 3 pacientes com DHS-2 e 2 pacientes com CAc. O diagnóstico permaneceu obscuro em 79,3 por cento dos pacientes. DHS-2 foi a principal causa do fenótipo DH-símile no grupo analisado, provavelmente devido a ancestralidade africana na população brasileira. Entretanto, a etiologia permaneceu indeterminada na maioria dos pacientes avaliados.