scholarly journals Hereditary spastic paraplegia-a differential for spastic paraplegia in children

2020 ◽  
Vol 8 (1) ◽  
pp. 182
Author(s):  
Niharika Shetty ◽  
Sahana Devadas ◽  
Mallesh Kariappa
Keyword(s):  
Genetic Analysis ◽  
Clinical Examination ◽  
Neurodegenerative Disorders ◽  
Hereditary Spastic Paraplegia ◽  
Adult Life ◽  
Lower Limbs ◽  
Spastic Paraplegia ◽  
Mri Brain ◽  
Progressive Weakness ◽  
Rule Out

Hereditary spastic paraplegia (HSP) is a group of neurodegenerative disorders with familial origin mainly affecting the lower limbs. It has a prevalence of 3-10/100,000. The diagnosis is by symptomatology, clinical examination and neuroimaging to rule out other causes of spastic paraplegia. The diagnosis is confirmed by genetic analysis. Since this disorder is slowly progressive with nonspecific MRI brain findings the diagnosis can be delayed with delay in the start of rehabilitation measures. This disorder is usually diagnosed in the adult life and the literature has very few cases of paediatric HSP and hence we are reporting a case of HSP. Here we present the case of two siblings who presented to us with progressive weakness of both the lower limbs.

scholarly journals A Japanese hereditary spastic paraplegia family with a rare nonsynonymous variant in the SPAST gene

2021 ◽  
Vol 8 (1) ◽  
Author(s):  
Takuya Morikawa ◽  
Shiroh Miura ◽  
Takahisa Tateishi ◽  
Kazuhito Noda ◽  
Hiroki Shibata
Keyword(s):  
Molecular Diagnosis ◽  
Hereditary Spastic Paraplegia ◽  
Autosomal Dominant ◽  
Family Members ◽  
Pathogenic Variant ◽  
Lower Limbs ◽  
Spastic Paraplegia ◽  
Nonsynonymous Variant ◽  
Japanese Family ◽  
Functional Variants

AbstractSpastic paraplegia (SPG) type 4 is an autosomal dominant SPG caused by functional variants in the SPAST gene. We examined a Japanese family with three autosomal dominant SPG patients. These patients presented with typical symptoms of SPG, such as spasticity of the lower limbs. We identified a rare nonsynonymous variant, NM_014946.4:c.1252G>A [p.Glu418Lys], in all three family members. This variant has previously been reported in a Russian SPG family as a “likely pathogenic” variant.5 Ascertainment of additional patients carrying this variant in an unrelated Japanese SPG family further supports its pathogenicity. Molecular diagnosis of SPG4 in this family with hereditary spastic paraplegia is confirmed.

scholarly journals Clinical and genetic analysis of ATP13A2 in hereditary spastic paraplegia expands the phenotype

2020 ◽  
Vol 8 (3) ◽  
Author(s):  
Mehrdad A. Estiar ◽  
Etienne Leveille ◽  
Dan Spiegelman ◽  
Nicolas Dupre ◽  
Jean-François Trempe ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Hereditary Spastic Paraplegia ◽  
Spastic Paraplegia

Genetic analysis of SPG4 and SPG3A genes in a cohort of Chinese patients with hereditary spastic paraplegia

2014 ◽  
Vol 347 (1-2) ◽  
pp. 368-371 ◽  
Author(s):  
Xingjiao Lu ◽  
Zhidong Cen ◽  
Fei Xie ◽  
Zhiyuan Ouyang ◽  
Baorong Zhang ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Hereditary Spastic Paraplegia ◽  
Chinese Patients ◽  
Spastic Paraplegia

scholarly journals Hereditary spastic paraplegia: An “ears of the lynx” magnetic resonance imaging sign in a patient with recessive genetic type 11

2020 ◽  
pp. 197140092095382
Author(s):  
Emiliano Ruiz Romagnoli ◽  
Manuel Perez Akly ◽  
Luis A Miquelini ◽  
Jorge A Funes ◽  
Cristina H Besada
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Corpus Callosum ◽  
Hereditary Spastic Paraplegia ◽  
Brain Magnetic Resonance Imaging ◽  
Lower Limbs ◽  
Spastic Paraplegia ◽  
Resonance Imaging ◽  
Hereditary Spastic Paraplegias ◽  
Monogenic Diseases

Hereditary spastic paraplegias are an uncommon group of monogenic diseases that include 79 types of genetic disorders. The most frequent cause of recessive hereditary spastic paraplegia is a mutation in the spastic paraplegia gene type 11 followed by type 15. This group is usually associated with non-specific clinical features like cognitive decline and may precede the progressive weakness and spasticity of lower limbs. The magnetic resonance imaging hallmark of hereditary spastic paraplegia is thinning of the spinal cord. However, brain magnetic resonance imaging may provide relevant clues for specific hereditary spastic paraplegia subtypes, and thinning of the corpus callosum has been described as the most frequent abnormality in almost one-third of recessive hereditary spastic paraplegias. Moreover, a characteristic abnormality affecting the forceps minor of the corpus callosum has been recently reported as the “ears of the lynx” sign and is highly suggestive of type 11 and 15 hereditary spastic paraplegias. We report a patient who was diagnosed with hereditary spastic paraplegia type 11 by exome genetic testing, presenting the ears of the lynx sign in the first magnetic resonance imaging assessment.

scholarly journals A Complex Phenotype of a Patient with Spastic Paraplegia Type 4 Caused by a Novel Pathogenic Variant in the SPAST Gene

2021 ◽  
pp. 763-771
Author(s):  
Yuichi Akaba ◽  
Ryo Takeguchi ◽  
Ryosuke Tanaka ◽  
Satoru Takahashi
Keyword(s):  
Cognitive Impairment ◽  
Corticospinal Tract ◽  
Focal Epilepsy ◽  
Clinical Manifestations ◽  
Missense Variant ◽  
Lower Limbs ◽  
Spastic Paraplegia ◽  
Microtubule Severing ◽  
Hereditary Spastic Paraplegias ◽  
Progressive Weakness

Hereditary spastic paraplegias (HSPs) are rare neurological disorders caused by degeneration of the corticospinal tract. Among the 79 causative genes involved in HSPs, variants in <i>SPAST</i> on chromosome 2p22, which encodes the microtubule-severing protein spastin, are responsible for spastic paraplegia type 4 (SPG4), the most common form of HSPs. SPG4 is characterized by a clinically pure phenotype that is associated with restricted involvement of the corticospinal tract; however, it is often accompanied by additional neurological symptoms such as epilepsy and cognitive impairment. There are few reports regarding the clinical course and treatment of epilepsy associated with SPG4. We describe a 21-year-old male patient with progressive weakness and spasticity of the lower limbs since infancy, which was complicated by epilepsy and cognitive impairment. Magnetic resonance imaging of the brain showed right hippocampal atrophy before the onset of epilepsy. Genetic analysis revealed a novel missense variant (NM_014946.4:c.1330G&#x3e;C, p.Asp444His) in the <i>SPAST</i> gene. At the age of 13, the patient developed focal epilepsy, characterized by focal onset seizures that were preceded by a sensation of chest tightness. Carbamazepine, levetiracetam, and zonisamide were ineffective in controlling the seizures; however, the use of lacosamide in combination with lamotrigine and valproate was highly effective in improving the seizure symptoms and led to the patient being seizure free for at least 2 years. In conclusion, the missense variant in <i>SPAST</i> may cause a complex SPG4 phenotype accompanied by epilepsy and cognitive impairment, suggesting that the clinical manifestations of this condition do not confine to the motor system.

scholarly journals Clinical and genetic analysis of four Taiwanese families with autosomal dominant hereditary spastic paraplegia

2012 ◽  
Vol 111 (7) ◽  
pp. 380-385 ◽  
Author(s):  
Min-Yu Lan ◽  
Ser-Chen Fu ◽  
Yung-Yee Chang ◽  
Yah-Huei Wu-Chou ◽  
Szu-Chia Lai ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Hereditary Spastic Paraplegia ◽  
Autosomal Dominant ◽  
Spastic Paraplegia

scholarly journals Clinical features and management of hereditary spastic paraplegia

2014 ◽  
Vol 72 (3) ◽  
pp. 219-226 ◽  
Author(s):  
Ingrid Faber ◽  
Katiane R. Servelhere ◽  
Alberto R. M. Martinez ◽  
Anelyssa D?Abreu ◽  
Iscia Lopes-Cendes ◽  
...  
Keyword(s):  
Hereditary Spastic Paraplegia ◽  
Significant Proportion ◽  
Clinical Problem ◽  
Sporadic Case ◽  
Lower Limbs ◽  
Spastic Paraplegia ◽  
Diagnostic Features ◽  
Recent Advances ◽  
Wide Range ◽  
The Central Nervous System

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.

Clinical and genetic analysis of Taiwanese patients with hereditary spastic paraplegia type 5

2014 ◽  
Vol 22 (1) ◽  
pp. 211-214 ◽  
Author(s):  
M.-Y. Lan ◽  
T.-H. Yeh ◽  
Y.-Y. Chang ◽  
H.-C. Kuo ◽  
H. S. Sun ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Hereditary Spastic Paraplegia ◽  
Spastic Paraplegia

scholarly journals Hereditary spastic paraplegia

2019 ◽  
pp. 1-6
Author(s):  
Akgun Olmez ◽  
Haluk Topaloglu
Keyword(s):  
Hereditary Spastic Paraplegia ◽  
Autosomal Dominant ◽  
Case Reports ◽  
Original Description ◽  
Lower Limbs ◽  
Clinical Feature ◽  
Spastic Paraplegia ◽  
Pyramidal Tracts ◽  
Spastic Gait ◽  
Mode Of Inheritance

Historical note and nomenclature. Hereditary spastic paraplegia is the name given to a group of diseases that are heterogenous and inherited, in which the main clinical feature is progressive spasticity of the lower limbs. The original description of hereditary spastic paraplegia was made by Strümpell in 1880. He described “a pure spastic movement disorder of the legs” in 2 brothers who developed a spastic gait at the ages of 37 and 56 years. Their father was said to be “a little lame,” suggesting that the mode of inheritance might be autosomal dominant (Strumpell 1880). He later defined additional cases and described the pathological changes of the spinal cord, especially the degeneration of the pyramidal tracts. At the end of 19th century, Lorrain published 3 cases with similar clinical features (Lorrain 1898). The disease was also called Strümpell-Lorrain syndrome. Many cases with additional neurologic features were added to the literature, and many case reports seem to have given different names to possibly the same disease.

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