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1.
目的 报道2例成年型神经元蜡样质脂褐质沉积症(ANCL)临床特点和病理改变。方法 综合分析临床资料和病理结果。结果 患者临床表现为智能障碍、肌阵挛、运动障碍、行为异常及锥体外系症状。电镜下可见神经元及胶质细胞胞浆内有大量脂褐素体沉积。结论 根据起病年龄、临床表现及超微结构特征可诊断为成年型神经元蜡样质脂褐质沉积症,脑活检电镜检查是确诊本病的可靠方法。 相似文献
2.
目的报告6例经病理诊断为青少年型神经元蜡样质脂褐素沉积病(juvenlie neuronal ceroid lipofus-cinosis,JNCL)患者的临床特点以及部分患者的基因研究结果。方法总结分析6例JNCL患者的临床特点,并对其中3例患者进行CLN3基因检查。结果 6例患者,发病年龄为2~7岁,首发症状4例主要为癫痫,2例为视力下降。主要临床表现包括癫痫、视力下降、智能减退。基因检查3例患者均没有发现国外常见的CLN3基因的大片断缺失,在1例患者发现位于第一外显子的c3G→T杂合突变。结论国人JNCL具有自己的特点,在CLN3基因的突变类型方面和其他地区的病例可能不完全相同,也可能存在新的基因。 相似文献
3.
成人型与青少年型神经元蜡样质脂褐质沉积症 总被引:1,自引:0,他引:1
目的 :报道 2例神经元蜡样质脂褐质沉积症 (NCL)。方法 :临床和病理学观察。结果 :2例病人均有智能障碍 ,但ANCL同时伴有运动障碍 ,JNCL则伴有癫及性格改变。电镜下ANCL胶质细胞及神经元胞质内沉积物形式主要为脂褐素体 ,而JNCL主要为指纹体 ,同时有较多脂褐素体。结论 :根据起病年龄、临床表现及超微结构特点可分出本病的成年型和青少年型 相似文献
4.
神经元腊样质脂褐素沉积病的临床和影像学特点 总被引:1,自引:1,他引:1
目的探讨神经元腊样质脂褐素沉积病(NCL)的临床表现规律和影像学特点。方法回顾分析我院经病理检查确诊的11例NCL患者的临床和影像学资料,对比分析国内报道的15例同类型NCL的临床和影像学资料。结果26例患者中青少年型NCL12例,占46%,3~15岁发病,首发症状多为智力减退或癫痫发作。晚期婴儿型NCL8例,占31%,1~7岁发病,首发症状表现为癫痫发作。婴儿型NCL4例,占15%,出生后4~9个月发病,首发症状表现为智能和运动发育停滞。成年型NCL2例,占8%,26及32岁发病,以痴呆和精神异常为首发症状。磁共振成像(MRI)特点主要表现为弥漫性脑萎缩,部分患者伴随白质损害,婴儿型和晚期婴儿型NCL出现丘脑改变。结论NCL患者的发病类型以青少年型为主,不同类型的NCL临床症状及出现顺序各异,影像学改变类似,婴儿型及晚发婴儿型伴丘脑损害。 相似文献
5.
目的总结临床病理诊断为晚期婴儿型神经元蜡样质脂褐素沉积病(LINCL)患者的临床特点和基因改变。方法总结分析9例LINCL患者(其中3例为文献报道的患者)的临床特点,并对其中4例患者进行CLN2基因检测。结果癫痫是我国LINCL患者最主要的首发临床症状,其发作表现形式多样。CLN2基因检查结果显示,在两例患者分别发现位于第3内含子的IVS3-1G→A剪接突变和第6外显子的G217V杂合突变以及第13外显子的S538Y纯合突变,上述突变均为文献尚未报道过的新突变,在50名健康人中未发现这些基因突变。另两例患者CLN2基因检查正常。结论我国LINCL患者癫痫发作具有多种表现形式,肌阵挛癫痫不常见。我国CLN2基因的突变类型与其他国家或地区可能不同,也可能存在新的基因。 相似文献
6.
《临床神经病学杂志》2021,34(4)
目的探讨Parkin基因复合杂合突变的早发型帕金森病的临床特点。方法回顾性分析1例Parkin基因复合杂合突变早发型帕金森病患者的临床资料,并进行文献复习。结果患者为47岁女性,24年前开始出现运动迟缓、四肢僵硬、震颤。全外显子组基因检测显示,患者Parkin基因存在2处基因突变,c.8TA杂合突变导致其编码蛋白发送p.V3E错义突变;c.850GC杂合突变导致其编码蛋白发生p.G284R错义突变。家系验证结果显示,两处突变分别来自于父母,其余直系亲属均只携带一处杂合突变。结论 Parkin基因复合杂合突变的早发型帕金森病患者表现为逐渐进展的四肢僵硬、震颤、运动迟缓为主的运动症状。Parkin基因复合杂合突变导致的编码蛋白错义突变可能是PD的重要病因。 相似文献
7.
《中风与神经疾病杂志》2019,(8):751-752
<正>亚历山大病(Alexander disease,AxD)是一种罕见的常染色体显性遗传性脑白质病,最先是由Alexander于1949年进行报道提出的~([1])。影响该病的主要致病基因为胶质纤维酸性蛋白(GFAP)基因;传统分型根据发病年龄将其主要分为婴幼儿型、少年型及成人型~([2]),临床上以婴幼儿型较为常见;2011年Prust等~([3])提出新型分型标准将AxD分为Ⅰ型和Ⅱ 相似文献
8.
目的 探讨1例ATP7B基因特殊的复合杂合突变导致Wilson病的临床及影像学特征。方法 分析1例疑似Wilson病患者的临床表现及影像学特点,对其进行基因测序。结果 患者14岁开始即出现精神异常,17岁开始出现不自主震颤、写字过小等神经系统症状,血清铜蓝蛋白水平降低,瞳孔笔照射下可见双眼角膜色素环(Kayser-Fleischer ring,K-F环),肝脏彩超提示肝脏弥漫性损害; 具备Wilson病的典型影像学表现,即双侧丘脑、中脑、脑桥对称性长T1长T2信号,轻度脑萎缩改变; 基因检测提示ATP7B基因特殊的复合杂合突变,即c.1470C>A(p.C490*),4号内含子区域剪接突变c.1708-1G>C(splice-3), 启动子区域c.-157-u53A>T, c.1168A>G(p.I390V); 家系验证发现先证者父亲及弟弟存在杂合突变c.1708-1G>C(splice-3),c.-157-u53A>T(promoter), c.1168A>G(p.I390V)。根据美国遗传学与基因组学学会(American college of medical genetics and genomics, ACMG)指南,前3个变异位点均评级为致病性突变,证据分别为PVS1+PM2_支持+PP4; PVS1+PM2_支持+PM3_非常强+PP4; PS3+PM2_支持+PM3_强+PP4。变异位点c.1168A>G评级为临床意义未明(PM2_支持+PP4)。结论 该复合杂合突变患者具备Wilson病典型的临床及影像学特征。 相似文献
9.
目的研究脂质沉积性肌病(Lipid storage myopathy,LSM)合并阿托伐他汀钙致横纹肌溶解症(Rhabdomyolysis,RM)的临床表现及病理特征。方法回顾性分析1例LSM合并阿托伐他汀钙所致RM的临床和病理学资料。结果本例脑梗死患者在规律服用拜阿司匹林、阿托伐他汀钙1年后渐出现睁眼困难、饮水呛咳、四肢乏力。入院查肌酸激酶(CK)水平显著升高,谷丙转氨酶(ALT)和谷草转氨酶(AST)水平偏高。肌肉活检:肌原纤维间脂滴轻度增多,部分区域肌纤维变性、横纹模糊。停用阿托伐他汀钙8 d后肌酸激酶水平和症状完全恢复正常和消失。结论 LSM患者既往有阿托伐他汀钙用药史,逐渐出现四肢乏力,停用阿托伐他汀钙后患者症状迅速消失,应考虑合并阿托伐他汀钙致RM,肌原纤维间脂滴轻度增多合并部分区域肌纤维变性、横纹模糊是肌肉病理特征。 相似文献
10.
正脊肌萎缩症合并Ⅰ型呼吸衰竭(spinal muscular atrophy with respiratory distress type 1,SMARD1)是一种常染色体隐性遗传性疾病,该病非常罕见,至今全世界已报告60余例,而我国仅有1例报告。致病基因位于常染色体11q13.3的免疫球蛋白μ结合蛋白2(immunoglobulinμ-binding protein 2,IGHMBP2)基因,其发病主要与脊髓前角的α运动神经元受损有关,但至今详细的发病机制仍不明 相似文献
11.
Mazzei R Conforti FL Magariello A Bravaccio C Militerni R Gabriele AL Sampaolo S Patitucci A Di Iorio G Muglia M Quattrone A 《Journal of neurology》2002,249(10):1398-1400
We describe the clinical, neuropathological and molecular findings from a patient affected with neuronal ceroid lipofuscinosis
with a juvenile onset (JNCL). She was a 9-year-old right-handed girl with a normal birth and early developmental milestones.
At the age of 4 the early symptoms began. Skin biopsy showed granular osmiophilic deposits (GRODs).
Because JNCL with GRODs is caused by mutations in the CNL1 gene, we performed a molecular investigation by direct sequencing
of nine exons of the CNL1 gene. This analysis revealed a novel mutation in homozygous form in the exon 7 that caused an aminoacid
substitution at codon 222 (Leu → Pro). Direct sequencing of the exon 7 in both parents showed the same substitution in heterozygous
form.
Received: 30 November 2001, Received in revised form: 8 April 2002, Accepted: 23 April 2002
RID="*"
ID="*"These authors contributed equally to this work
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ID="*"These authors contributed equally to this work
Correspondence to Prof. Aldo Quattrone, MD 相似文献
12.
R. Kälviäinen K. Eriksson M. Losekoot I. Sorri I. Harvima P. Santavuori I. Järvelä T. Autti R. Vanninen T. Salmenperä O. P. van Diggelen 《European journal of neurology》2007,14(4):369-372
Accurate diagnosis, especially in progressive hereditary diseases, is essential for the treatment and genetic counseling of the patient and the family. Neuronal ceroid lipofuscinoses (NCL) are amongst the most common groups of neurodegenerative diseases. Infantile, juvenile, and adult-onset types with multiple genotype–phenotype associations have been described. A fluorimetric enzyme assay for palmitoyl protein thioesterase (PPT) from leukocytes and fibroblasts has been previously developed to confirm the diagnosis of infantile NCL. We describe a patient with juvenile-onset NCL phenotype with a new CLN1 mutation and deficient PPT activity.
Over 40 different mutations have been found in patients with PPT deficiency, indicating that screening for known mutations is not an efficient way to diagnose this disorder. Therefore, PPT enzyme analysis should precede mutation analysis in suspected PPT deficiency, particularly in patients with granular osmiophilic deposits (GROD) or in patients who have negative ultrastructural data. The use of enzyme assay led to the diagnosis of this patient with juvenile-onset Finnish variant NCL with PPT deficiency, and we expect that greater awareness of the utility of the enzymatic assay may lead to identification of other similar cases awaiting a definitive diagnosis. 相似文献
Over 40 different mutations have been found in patients with PPT deficiency, indicating that screening for known mutations is not an efficient way to diagnose this disorder. Therefore, PPT enzyme analysis should precede mutation analysis in suspected PPT deficiency, particularly in patients with granular osmiophilic deposits (GROD) or in patients who have negative ultrastructural data. The use of enzyme assay led to the diagnosis of this patient with juvenile-onset Finnish variant NCL with PPT deficiency, and we expect that greater awareness of the utility of the enzymatic assay may lead to identification of other similar cases awaiting a definitive diagnosis. 相似文献
13.
Haines JL Boustany RM Alroy J Auger KJ Shook KS Terwedow H Lerner TJ 《Neurogenetics》1998,1(3):217-222
Classical late-infantile neuronal ceroid lipofuscinosis (LINCL;CLN2) is an inherited neurodegenerative disorder of childhood characterized by seizures, loss of vision, and progressive motor
and mental deterioration. The hallmark of this disease is the accumulation of enlarged, secondary lysosomes packed with curvilinear
bodies in cells of affected individuals. The biochemical basis of LINCL remains unknown and there is no treatment effective
in delaying the progression of this fatal disorder. During a genome-wide search using a set of highly polymorphic markers
and 15 affected individuals from 7 multi-affected families, we obtained evidence for linkage of the LINCL gene CLN2 with markers on chromosome 11p15.5. We then genotyped patients and all available family members, including 8 single-affected
families, for markers spanning 15 cM of 11p15.5. We obtained a maximum two-point LOD score of 6.16 at θ = 0.00 at the marker
locus D11S2362. Multipoint analysis yielded a maximum LOD score of 6.90 localized to the same marker. Using haplotype analysis, we localized
CLN2 to a minimum candidate region of 11 cM flanked by marker loci D11S4046 on the telomeric side and D11S1996 on the centromeric side. Additionally, we present data suggesting that the gene underlying a variant LINCL subtype found
in Costa Rica maps to the region defined by the CLN6 locus on chromosome 15q21-23. The mapping of these two LINCL loci provides a genetic basis for understanding the clinical
heterogeneity observed in this group of diseases.
Accepted: September 4, 1997 相似文献
14.
15.
S. Lamminranta L. E. Åberg T. Autti R. Moren T. Laine J. Kaukoranta & P. Santavuori 《Journal of intellectual disability research : JIDR》2001,45(1):8-17
The aim of the present study was to develop a neuropsychological test battery for patients with juvenile neuronal ceroid lipofuscinosis (JNCL) and to study the development of cognitive functions during the first 5 years after diagnosis. Fourteen patients with JNCL entered the study. Nine patients were homozygous for the major mutation, whereas five were compound heterozygotes. All patients were studied annually with a special neuropsychological test battery (NEPSY) adapted from Luria's neuropsychological test, and modified for the visually handicapped; the Wechsler Intelligence Scale for Children – Revised (WISC‐R) was also included. The neurological examinations were scored. Furthermore, 1.OT magnetic resonance imaging scan was performed at the beginning of follow‐up and after a mean of 5 years. A decline in verbal IQ (WISC‐R) during the follow‐up period was found in all subjects except one compound heterozygous male. Short‐term memory and digit memory span were already impaired at an early stage of the disease. Orientation to time was found to decline more than orientation to person and place. Motor speed usually became impaired after 10 years of age. Spatial orientation was impaired only in the patients homozygous for the major mutation. The test battery was found to be reliable and easy to use, and offered valuable information on the progress of the disease. It also provided important guidelines for rehabilitation. 相似文献
16.
Stogmann E El Tawil S Wagenstaller J Gaber A Edris S Abdelhady A Assem-Hilger E Leutmezer F Bonelli S Baumgartner C Zimprich F Strom TM Zimprich A 《Neurogenetics》2009,10(1):73-77
Neuronal ceroid lipofuscinoses (NCL) are lysosomal storage disorders and constitute the most common group of progressive neurodegenerative
diseases in childhood. Most NCLs are inherited in a recessive manner and are clinically characterised by a variable age at
onset, epileptic seizures, psychomotor decline, visual impairment and premature death. To date, eight causative genes have
been identified to underlie various clinical forms of NCL. We performed a genome-wide linkage analysis followed by sequencing
the recently described NCL gene MFSD8 in three affected and three unaffected members of a consanguineous Egyptian family with an autosomal recessively inherited
progressive neurodegenerative disorder. The clinical picture of the patients was compatible with a late infantile NCL (LINCL);
however, impairment of the visual system was not a cardinal symptom in the respective family. By linkage analysis, we identified
two putative loci on chromosome 1p36.11-p35.1 and 4q28.1-q28.2. The latter locus (4q28.1-q28.2) contained the MFSD8 gene, comprising a novel homozygous missense mutation in exon 5 (c.362a>g /p.Tyr121Cys), which segregated with the disease
in the three affected sibs. We describe a novel mutation in the previously identified MFSD8 gene in a family with a common phenotype of LINCL, but no clinical report of vision loss. Our results enlarge the mutational
and perhaps the nosological spectrum of one of the recently identified subtypes of NCL, called CLN7.
Electronic supplementary material The online version of this article (doi:) contains supplementary material, which is available to authorized users. 相似文献
17.
Long‐term follow‐up of two siblings with adult‐onset neuronal ceroid lipofuscinosis,Kufs type A
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Çiğdem Özkara Ayşegül Gündüz Tülin Coşkun Bengi Gül Alpaslan Burcu Zeydan Şakir Delil Mikko Muona Anna‐Elina Lehesjoki Meral E. Kızıltan 《Epileptic Disord》2017,19(2):147-151
Aim. Reports on the clinical presentation of adult‐onset neuronal ceroid lipofuscinoses (NCL) are scarce compared to infantile‐ and childhood‐onset forms. Here, we aimed to present detailed temporal evolution of clinical and electrophysiological features of two siblings with adult‐onset NCL and homozygous mutation in the CLN6 gene. Methods. We retrospectively analysed medical records and electrophysiological data in order to delineate evolution of clinical and electrophysiological findings. Electrophysiological studies included routine EEG and video‐EEG, as well as polymyographic analysis of myoclonus and brainstem reflex studies. Results. Both patients had seizures and cerebellar signs. Despite the slow progression of ataxia, they developed no mental deterioration, but had severe obsessive compulsive disorder and depression. EEG revealed frequent generalized spikes, polyspikes, and waves, prominent on awakening and during photic stimulation without significant change throughout the clinical course. Abnormalities concerning the blink reflex, auditory startle response, and startle response to somatosensory inputs manifested within four years. The patients underwent transient and mild improvement with valproate, whereas ataxia and seizures were dramatically ameliorated following high‐dose piracetam. Conclusions. Patients with adult‐onset NCL may present with slowly progressive ataxia, persistent photosensitivity, and seizures without dementia or extrapyramidal findings. Brainstem abnormalities become more evident with time, in line with ataxia. Piracetam is effective for both seizures and ataxia. 相似文献
18.
Jillian M. Cameron John A. Damiano Bronwyn Grinton Patrick W. Carney Penny McKelvie Peter Silbert Nicholas Lawn Ingrid E. Scheffer Karen L. Oliver Michael S. Hildebrand Samuel F. Berkovic 《Epilepsia》2023,64(7):1833-1841