ATAD3A gene variations in a family with Harel-Yoon syndrome / 浙江大学学报·医学版

An 11-day-old female neonate was admitted for cough with mouth foaming and feeding difficulties. The laboratory results indicated hyperlactatemia, elevated markers of myocardial injury and inflammation, and high levels of acylcarnitine octanoylcarnitine and decanoylcarnitine in tandem mass spectrometry. Ultrasonography and MRI suggested cardiac insufficiency and hypertrophic cardiomyopathy. Whole exome sequencing showed that both the proband and her elderly sister had a compound heterozygous variant of c.1492dup (p.T498Nfs*13) and c.1376T>C (p.F459S) in the ATAD3A gene, inherited from their father and mother, respectively. The diagnosis of Harel-Yoon syndrome was confirmed. The proband and her sister were born with clinical manifestations of metabolic acidosis, hyperlactatemia, feeding difficulties, elevated markers of myocardial injury as well as cardiac insufficiency, and both died in early infancy.

Hereditary spastic paraplegia due to nipa1 gene mutation: case report

ABSTRACT Introduction: Hereditary spastic paraplegia (HSP) is the term for a group of neurological disorders characterized by progressive spasticity and muscle weakness in the lower limbs. Its etiology is genetic and has been associated with mutations in more than 60 genes. HSP is rare and may be useful in the differential diagnosis of cerebral palsy. Case presentation: 16-year-old male with a diagnosis of HSP due to mutation of the NIPAi gene:c.316G>A (p. Gly106arg), which corresponds to HSP type 6 (SPG6). The patient presented with clinical signs of progressive upper motor neuron syndrome in the lower limbs, such as spasticity, hyperreflexia and paraparesis, associated with focal onset seizures diagnosed at age 11 and successfully treated with valproic acid. Spasticity treatment was complex and included oral baclofen, intraoperative botulinum toxin, physical therapy, and multilevel orthopedic surgery for the management of musculoskeletal deformities. Conclusion: This is a rare case of complex HSP, associated with epilepsy, due to the mutation of the NIPAi gene (SPG6), the most common pathogenic variant within this type of mutation. The present case demonstrates the importance of making an early diagnosis of GSP6 to perform timely interventions in these patients, prevent complications, and avoid a higher level of disability.

RESUMEN Introducción. La paraplejía espástica hereditaria (PEH) es un grupo de trastornos neurológicos caracterizados por espasticidad progresiva y debilidad muscular de miembros inferiores. Su etiología es genética y se ha asociado con mutaciones en más de 60 genes. La PEH es poco frecuente y puede ser útil en el diagnóstico diferencial de la parálisis cerebral. Presentación de caso. Adolescente masculino de 16 años con diagnóstico de PEH por mutación del gen NIPAi: c. 316G>A (p. Gly106arg), correspondiente a una PEH tipo 6 (SPG6). El paciente presentó signos clínicos de síndrome de motoneurona superior progresivos en miembros inferiores como espasticidad, hiperreflexia y paraparesia, asociados a epilepsia de inicio focal diagnosticada a los 11 años y tratada satisfactoriamente con ácido valproico. El manejo de la espasticidad fue complejo e incluyó baclofeno oral, toxina botulínica intraoperatoria, terapia física y cirugía ortopédica multinivel para manejo de deformidades musculoesqueléticas en miembros inferiores. Conclusión. El presente caso demuestra la importancia de realizar un diagnóstico temprano de la SPG6 (variante más común de la PEH) para realizar intervenciones oportunas en estos pacientes, prevenir complicaciones y evitar un mayor nivel de discapacidad.

Advances in treatment of hereditary spastic paraplegia / 国际儿科学杂志

Hereditary spastic paraplegia (HSP) is a neurodegenerative disease with clinical manifestations of increased muscle tone, enhanced tendon reflex and positive pathological reflex of both lower limbs.Currently, the pathological mechanism of HSP is considered as bilateral corticospinal axonal degeneration.So far, more than 80 pathogenic genes have been reported to be associated with the pathogenesis of HSP, among which spastic paraplegia type 4 (SPG4) caused by SPAST mutation is the most common.Genetic testing is crucial for diagnosing and typing HSP.The incidence of this disease is low.Although it is not a short-term fatal disease, it will seriously affect the patient′s self-care ability and cause seriously psychological burden to the patient with the progress of the disease.There is no effective cure for the disease at present.In this paper, the therapeutic methods of HSP are reviewed from different aspects: small molecular compounds, gene therapy, rehabilitation therapy and surgical treatment.

Research on clinical and molecular genetics of hereditary spastic paraplegia 11 patients in China / 中南大学学报(医学版)

The hereditary spastic paraplegia (HSP) is a rare hereditary disease in nervous system due to the damage of corticospinal tract. HSP has various inheritance modes, including autosomal dominant inheritance, autosomal recessive inheritance, X-linked inheritance, and mitochondrial inheritance in some cases. At present, there are at least 80 subtypes of HSP. Hereditary spastic paraplegia type 11 (SPG11) is the most common subtype in autosomal recessive inheritance, and its pathogenic factor is KIAA1840 gene, which encodes spatacsin protein. A total of 52 SPG11 patients aged from 4-24 years old have been reported. Their initial symptoms were gait disturbance and/or mental retardation. As the disease develops, they may present with mental retardation, sphincter disturbance, decreased vision, ataxia, amyotrophy, pes arcuatus, ophthalmoplegia, peripheral neuropathy, and others. Except agenesis of the corpus callosum and periventricular white matter changes, patients might show cortical atrophy, ventricular dilation, and cerebellar atrophy, and so on. Chinese SPG11 patients manifested significant clinical and genetical heterogeneity and no obvious gender difference. Of them, 37 pathogenic mutations of KIAA1840 gene were detected, which all introduced truncated mutation of spatacsin protein. KIAA1840 gene frameshift mutation is the most common type of mutation.

Hereditary spastic paraplegia from 1880 to 2017: an historical review / Paraplegia espástica hereditária de 1880 a 2017: uma revisão histórica

ABSTRACT The authors have constructed a brief timeline of major clinical research related to hereditary spastic paraplegia (HSP). This timeline summarizes the evolution of HSP research, from the first clinical descriptions by Adolf von Strümpell in 1880 to the present day, with the transformation of these diseases into a rapidly-growing and heterogeneous group of neurogenetic diseases.

RESUMO Os autores constroem uma breve linha do tempo com as principais pesquisas clinicas relacionadas as paraplegias espásticas hereditárias. Desde a descrição clínica inicial em 1880, feita por Adolf von Strümpell, até os dias atuais com a transformação dessas doenças em um grupo de doenças neurogenéticas com grande variabilidade na apresentação fenotípica e genotípica.

Progress of pathogenesis of hereditary spastic paraplegia type 4 / 上海交通大学学报（医学版）

Hereditary spastic paraplegia (HSP) is a group of significantly clinically and genetically heterogeneous neurodegenerative disorders, which are predominantly characterized by progressive lower limbs weakness and spasticity, and spastic paraplegia type 4 (SPG4) is the most common type among them. So far, mutations in 78 distinct loci and 59 mutated genes have been identified in patients with HSP. The protein spastin coded by the SPAST gene plays a critical role in regulating length, number and activity of microtubules, as well as the occurrence and development of various organelles. It is generally believed that the mutated spastin leads to partial or total loss of the function, which is the main pathogenetic mechanism. While recent studies have also suggested that there may exist acquired neurotoxic effects of mutant proteins by the two isoforms (M1, M87) coded by the SPAST gene, which is also one of the critical mechanisms. In this paper, the pathogenesis of SPG4 was reviewed.

Progress of pathogenesis of hereditary spastic paraplegia type 4 / 上海交通大学学报（医学版）

Hereditary spastic paraplegia (HSP) is a group of significantly clinically and genetically heterogeneous neurodegenerative disorders, which are predominantly characterized by progressive lower limbs weakness and spasticity, and spastic paraplegia type 4 (SPG4) is the most common type among them. So far, mutations in 78 distinct loci and 59 mutated genes have been identified in patients with HSP. The protein spastin coded by the SPAST gene plays a critical role in regulating length, number and activity of microtubules, as well as the occurrence and development of various organelles. It is generally believed that the mutated spastin leads to partial or total loss of the function, which is the main pathogenetic mechanism. While recent studies have also suggested that there may exist acquired neurotoxic effects of mutant proteins by the two isoforms (M1, M87) coded by the SPAST gene, which is also one of the critical mechanisms. In this paper, the pathogenesis of SPG4 was reviewed.

Hereditary spastic paraplegia with SPG30 mutation: A report from North East China

Hereditary spastic paraplegia is a heterogeneous group of genetic neurodegenerative disorders of the nervous system. It is classified into four subtypes based on the mode of inheritance; and among them, most autosomal recessive hereditary spastic paraplegia cases are due to type SPG11 and SPG15 gene mutations. Autosomal recessive hereditary spastic paraplegia cases with SPG30 gene mutation have never been reported in China. Herein, we present our experience with a case of hereditary spastic paraplegia with SPG30 gene mutation in our hospital from North East China. In this patient we detected a missense mutation of c.499 C>T (p.Arg167Cys) in gene KIF1A, a causative gene of type SPG30.

Cognitive dysfunction in hereditary spastic paraplegias and other motor neuron disorders / Distúrbios cognitivos nas paraparesias espásticas hereditárias e outras desordens do neurônio motor

ABSTRACT Hereditary spastic paraplegia (HSP) is a diverse group of single-gene disorders that share the predominant clinical feature of progressive lower limb spasticity and weakness. More than 70 different genetic subtypes have been described and all modes of inheritance are possible. Intellectual dysfunction in HSP is frequent in recessive forms but rare in dominant families. It may manifest by either mental retardation and/or cognitive decline. The latter may be subtle, restricted to executive dysfunction or may evolve to severe dementia. The cognitive profile is thought to depend largely on the genetic subtype of HSP, although wide phenotypic variability within the same genetic subtype and also within the same family can be found.

RESUMO As paraplegias espásticas hereditárias (PEH) constituem um grupo heterogêneo de doenças monogenicamente determinadas que compartilham o aspecto clínico predominante de espasticidade e fraqueza progressivos. Mais de 70 subtipos genéticos já foram identificados, sendo que todos os modos de herança são possíveis. Disfunção intelectual é frequente nas formas de herança autossômica recessiva, enquanto nos subtipos dominantes sua ocorrência é considerada rara. Tais transtornos podem se manifestar como retardo mental e/ou declínio cognitivo progressivo. O último pode ser leve, restrito a disfunção executiva, ou evoluir para demência incapacitante. Acredita-se que o perfil cognitivo dos pacientes dependa grandemente do subtipo genético, contudo, grande variabilidade fenotípica pode ser verificada dentro de um mesmo subtipo e mesmo dentro da mesma família com paraparesia espástica hereditária.

Identification of a Heterozygous SPG11 Mutation by Clinical Exome Sequencing in a Patient With Hereditary Spastic Paraplegia: A Case Report

Next-generation sequencing, such as whole-genome sequencing, whole-exome sequencing, and targeted panel sequencing have been applied for diagnosis of many genetic diseases, and are in the process of replacing the traditional methods of genetic analysis. Clinical exome sequencing (CES), which provides not only sequence variation data but also clinical interpretation, aids in reaching a final conclusion with regards to genetic diagnosis. Sequencing of genes with clinical relevance rather than whole exome sequencing might be more suitable for the diagnosis of known hereditary disease with genetic heterogeneity. Here, we present the clinical usefulness of CES for the diagnosis of hereditary spastic paraplegia (HSP). We report a case of patient who was strongly suspected of having HSP based on her clinical manifestations. HSP is one of the diseases with high genetic heterogeneity, the 72 different loci and 59 discovered genes identified so far. Therefore, traditional approach for diagnosis of HSP with genetic analysis is very challenging and time-consuming. CES with TruSight One Sequencing Panel, which enriches about 4,800 genes with clinical relevance, revealed compound heterozygous mutations in SPG11. One workflow and one procedure can provide the results of genetic analysis, and CES with enrichment of clinically relevant genes is a cost-effective and time-saving diagnostic tool for diseases with genetic heterogeneity, including HSP.

Clinical features and management of hereditary spastic paraplegia / Aspectos clinicos e manejo das paraplegias espasticas hereditarias

Hereditary spastic paraplegia (HSP) is a group of genetically-determined disorders characterized by progressive spasticity and weakness of lower limbs. An apparently sporadic case of adult-onset spastic paraplegia is a frequent clinical problem and a significant proportion of cases are likely to be of genetic origin. HSP is clinically divided into pure and complicated forms. The later present with a wide range of additional neurological and systemic features. To date, there are up to 60 genetic subtypes described. All modes of monogenic inheritance have been described: autosomal dominant, autosomal recessive, X-linked and mitochondrial traits. Recent advances point to abnormal axonal transport as a key mechanism leading to the degeneration of the long motor neuron axons in the central nervous system in HSP. In this review we aim to address recent advances in the field, placing emphasis on key diagnostic features that will help practicing neurologists to identify and manage these conditions.

Paraplegias espásticas hereditárias (PEH) constituem um grupo de desordens geneticamente determinadas caracterizadas por espasticidade e paraparesia de progressão insidiosa. Paraplegia espástica aparentemente esporádica de início no adulto constitui problema frequente na prática neurológica. Evidências recentes sugerem que uma proporção significativa destes casos é geneticamente determinada. O grupo das PEH é dividido clinicamente em formas puras e complicadas de acordo com a concomitância de outras manifestações clinicas e neurológicas. Até o momento 60 tipos genéticos foram identificados. Todos os modos de herança monogênica já foram descritos: autossômica dominante, autossômica recessiva, ligada ao X e mitocondrial. Avanços recentes indicam que alterações do transporte axonal estão implicadas na degeneração dos longos axônios motores no sistema nervoso central na PEH. Nesta revisão abordamos recentes avanços na área com ênfase nos aspectos clínicos chave que ajudam o neurologista geral no diagnóstico e manejo correto deste grupo de doenças.

Mutation analysis of SPAST, ATL1, and REEP1 in Korean Patients with Hereditary Spastic Paraplegia

BACKGROUND AND PURPOSE: Hereditary spastic paraplegia (HSP) is a genetically heterogeneous group of neurodegenerative disorders that are characterized by progressive spasticity and weakness of the lower limbs. Mutations in the spastin gene (SPAST) are the most common causes of HSP, accounting for 40-67% of autosomal dominant HSP (AD-HSP) and 12-18% of sporadic cases. Mutations in the atlastin-1 gene (ATL1) and receptor expression-enhancing protein 1 gene (REEP1) are the second and third most common causes of AD-HSP, respectively. METHODS: Direct sequence analysis was used to screen mutations in SPAST, ATL1, and REEP1 in 27 unrelated Korean patients with pure and complicated HSP. Multiplex ligation-dependent probe amplification was also performed to detect copy-number variations of the three genes. RESULTS: Ten different SPAST mutations were identified in 11 probands, of which the following 6 were novel: c.760A>T, c.131C>A, c.1351_1353delAGA, c.376_377dupTA, c.1114A>G, and c.1372A>C. Most patients with SPAST mutations had AD-HSP (10/11, 91%), and the frequency of SPAST mutations accounted for 66.7% (10/15) of the AD-HSP patients. No significant correlation was found between the presence of the SPAST mutation and any of the various clinical parameters of pure HSP. No ATL1 and REEP1 mutations were detected. CONCLUSIONS: We conclude that SPAST mutations are responsible for most Korean cases of genetically confirmed AD-HSP. Our observation of the absence of ATL1 and REEP1 mutations needs to be confirmed in larger series.

Amplio espectro fenotípico de la SCA-3: paraparesia espástica hereditaria / The broad phenotypic spectrum of SCA-3: hereditary spastic paraplegia

La ataxia espinocerebelosa tipo 3 o enfermedad de Machado-Joseph (SCA-3/EMJ) es la forma más frecuente de ataxia espinocerebelosa autosómica dominante. Se caracteriza por una marcada variabilidad fenotípica, pudiendo causar formas no cerebelosas de presentación. En base a algunos casos comunicados, se ha propuesto una forma de presentación clínica similar a la de una paraparesia espástica hereditaria, con la presencia de signos de disfunción piramidal predominantes como la manifestación clínica inicial. Presentamos dos nuevos casos de SCA-3/EMJ con un cuadro clínico inicial sugerente de paraparesia espástica hereditaria y una revisión de los casos clínicos similares previamente informados. Nuestros hallazgos apoyan la propuesta de un subtipo de SCA-3/EMJ caracterizado por la presencia de marcada disfunción piramidal como manifestación inicial, simulando un cuadro clínico de paraparesia espástica hereditaria.

Machado-Joseph disease (MJD) is the most frequent dominantly inherited spinocerebellar ataxia. A marked phenotypic variability is a characteristic of this disorder that could involve non-cerebellar presentations. Based on several case reports describing pyramidal dysfunction as the main symptom at onset, a clinical form resembling hereditary spastic paraplegia has been proposed. We report here two further cases of MJD patients whose initial clinical presentation suggested hereditary spastic paraplegia, and a summary of the main findings of previously similar published reports. Our findings lent support to the proposal of a MJD subtype distinguished by a marked pyramidal dysfunction at onset, simulating a clinical picture of hereditary spastic paraplegia.

Hereditary Spastic Paraplegia with a Novel SPAST Mutation Misdiagnosed with Subacute Combined Degeneration

Autosomal dominant hereditary spastic paraplegia (AD-HSP) is due to mutations in the "spastin" gene (SPAST gene) encoding the AAA protein. The main clinical features of "pure" HSP are progressive lower-limb spasticity with corticospinal tracts and dorsal column degeneration without peripheral neuropathy. Here we report the case of HSP with novel SPAST gene mutation that misdiagnosed with subacute combined degeneration initially. A 58-year-old man with gait disturbance came to our hospital. He was unable to regulate his steps by himself. The impaired gait began 3 years after he had undergone subtotal gastrectomy and chemotherapy for 6 months. Thereafter, he started feeling tingling sensations in the hands and feet and acquired gait difficulties. He denied having a family history of abnormal gait or developmental problem. We diagnosed him with subacute combined degeneration on the evidence of history of gastrectomy, lower normal limit of vitamin B12 (363 pg/ml), apparent absence of vibration sensations and paresthesia in the feet. He was intramuscularly administered cyanocobalamin regularly. However, there was no improvement in his condition. We reconsidered his symptoms and signs, decided to examine the SPAST gene, which is the most common mutation in HSP. The SPAST gene, c.870+1delG, heterozygote, splicing mutation is detected from the gene sample. There was no previous information of this polymorphism or mutation at this locus. We examined his two children, and the same mutation was founded in his son. We report a patient of novel SPAST gene mutation with AD-HSP which is misdiagnosed with SCD.

Paraplegia espástica familiar: atualização / Familiar spastic paraplegia: update

A Paraplegia Espástica Familiar (PEF) é uma doença hereditária com apresentações diversas, que variam desde a forma pura de apresentação clínica, caracterizada por fraqueza nos membros inferiores, espasticidade, aumento dos reflexos tendíneos, podendo apresentar clônus ou sinal de Babinski, urgência urinária e diminuição da sensibilidade vibratória nas extremidades dos membros inferiores, e a forma complexa de apresentação, que consiste no tipo puro acrescido de outros sinais e sintomas neurológicos. A forma de transmissão é por herança genética autossômica dominante, autossômica recessiva ou ligada ao cromossomo X, e o diagnóstico definitivo da forma clínica depende da realização dos testes genéticos, que identificam os alelos mutantes e suas respectivas proteínas transcritas, as quais participam no processo fisiopatológico da doença. O objetivo deste trabalho é de revisar as características clínicas e genéticas na PEF, as vias fisiopatológicas e o aconselhamento genético. Para isso, foi realizada uma revisão de 82 trabalhos que abordam temas relevantes sobre o assunto.

The Hereditary Spastic Paraplegia (HSP) is a degenerative disease with various presentations, ranging from the pure form of clinical presentation, characterized by weakness in the lower limbs, spasticity, increase of tendineous reflexes and clonus, Babinski sign, urinary urgency and diminished distal lower limbs vibratory sensation. There are two different forms of presentation: the pure form and other with different neurological symptoms and signs in addition to spastic paraplegia. The means of transmission is by genetic inheritance autosomal dominant, autosomal recessive or X cromosome-linked and the definitive diagnosis depends on the performance of genetic tests that identify mutant alleles and their proteins transcribed, participating in a major pathophysiological process of the disease. The purpose of this work is to review the clinical and genetics features in HSP, the pathophysiologic pathways and the genetic counseling. In order to learn more about this disease we reviewed data of 82 works that discuss relevant topics on this subject.

Autosomal Dominant Hereditary Spastic Paraplegia Relavant with a Novel Thr369Pro Mutation in SPAST Gene

Hereditary spastic paraplegia (HSP) is a group of genetically heterogeneous neurodegenerative disorders that are characterized by progressive spasticity and weakness of both lower extremities. Here we report a novel missense mutation [c.1105A>C (p.Thr369Pro)] of SPG4 in a Korean family with an autosomal dominant-inherited pure HSP. The mutation is located in exon 8, and results in a heterozygote of the c.1105A>C mutation. It is likely that the mutation of exon 8 leads to spastin dysfunction and causes the typical symptoms and signs of HSP.

Thinning of the Corpus Callosum and Cerebellar Atrophy is Correlated with Phenotypic Severity in a Family with Spastic Paraplegia Type 11

BACKGROUND: Mutations in the spatacsin gene are associated with spastic paraplegia type 11 (SPG11), which is the most-common cause of autosomal recessive hereditary spastic paraplegia. Although SPG11 has diverse phenotypes, thinning of the corpus callosum is an important feature. CASE REPORT: Clinical, genetic, and radiological evaluations were undertaken in a large family from Gujarat in North India with hereditary spastic paraplegia, whose affected members presented with varying degrees of spasticity, ataxia, and cognitive impairment. The clinical severity and the degree of corpus callosum and cerebellar atrophy varied among the four affected individuals in the family. Genetic testing of the affected members revealed recessive mutations in the spatacsin gene, consistent with a diagnosis of SPG11. CONCLUSIONS: We believe that the extent of corpus callosum thinning and cerebellar atrophy is correlated with disease severity in affected patients. The addition of extrapyramidal features in the most-affected members suggests that SPG11 exhibits considerable phenotypic heterogeneity.

Motor and functional evaluation of patients with spastic paraplegia, optic atrophy, and neuropathy (SPOAN) / Avaliação motora e funcional de pacientes com paraplegia espástica, atrofia óptica e neuropatia (SPOAN)

Spastic paraplegia, optic atrophy, and neuropathy (SPOAN) is an autosomal recessive complicated form of hereditary spastic paraplegia, which is clinically defined by congenital optic atrophy, infancy-onset progressive spastic paraplegia and peripheral neuropathy. In this study, which included 61 individuals (age 5-72 years, 42 females) affected by SPOAN, a comprehensive motor and functional evaluation was performed, using modified Barthel index, modified Ashworth scale, hand grip strength measured with a hydraulic dynamometer and two hereditary spastic paraplegia scales. Modified Barthel index, which evaluate several functional aspects, was more sensitive to disclose disease progression than the spastic paraplegia scales. Spasticity showed a bimodal distribution, with both grades 1 (minimum) and 4 (maximum). Hand grip strength showed a moderate inverse correlation with age. Combination of early onset spastic paraplegia and progressive polyneuropathy make SPOAN disability overwhelming.

A paraplegia espástica, atrofia óptica e neuropatia (SPOAN) é uma forma complicada de paraplegia espástica de herança autossômica recessiva, caracterizada por atrofia óptica congênita, paraplegia espástica progressiva de início na infância e neuropatia periférica. Este estudo avaliou o desempenho motor e funcional de 61 indivíduos com SPOAN (5 a 72 anos), por meio do índice de Barthel modificado, a escala modificada de Ashworth, da avaliação da força de preensão das mãos com dinamômetro hidráulico de Jamar e escalas de paraplegia espástica hereditária. O índice de Barthel modificado, que investiga aspectos funcionais, mostrou-se mais sensível para avaliar a progressão da doença do que as escalas de paraplegia espástica. A espasticidade apresentou distribuição bimodal, com o grau 1 (mínimo) e 4 (máximo). A força de preensão mostrou correlação inversa moderada com a idade. A combinação de paraplegia espástica de início precoce com polineuropatia progressiva faz da SPOAN uma condição incapacitante.

Progress on the associated-gene of hereditary spastic paraplegia / 国际儿科学杂志

There are twenty-one gene-associated sites of hereditary spastic paraplegia (HSP) that have been reported, including eleve gene-associated sites of autosomal dominant inheritance, seven gene-associated sites of autosomal recessive and three gene-associated sites of X2 linked recessive. Nine genes of HSP have been cloned as followed, atlastin, spastin, paraplegin, L1CAM, PLP, Hsp60, maspardin, TRAK1 and so on.

Electrophysiology and Magnetic Resonance Imaging of Hereditary Spastic Paraplegia with Thin Corpus Callosum: 3 Cases Report / 中国康复理论与实践

@# Objective To explore the characteristics of hereditary spastic paraplegia with thin corpus callosum (HSP-TCC). Methods Clinical, electrophysiological, MRI features of 3 patients with HSP-TCC were reported. The genetic characteristics were reviewed. Results 3 patients revealed difficulty in walking, slowly progressive weakness, spasticity of the lower limbs and mental impairment. The electromyogram in 2 cases showed neurogenic damage in lower limbs muscle, and 1 case showed peripheral nerve damage. Cerebral MRI showed an extremely thin corpus callosum on sagittal image. The locus of 15q13-15 has been identified for HSP-TCC, but some HSP-TCC families have not been linked to this locus.Conclusion HSP-TCC is a common subtype of complicated HSP inherited by autosomal recessive mode. Brain MRI showed extremely thin corpus callosum. Electromyogram many reveal neurogenic damage.