China
Africa
Explore chapters and articles related to this topic
Central nervous system: Adult-onset and psychiatric disorders
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
Hereditary spastic paraplegia is often very benign in its course. Autosomal dominant inheritance is usual, but X-linked and, rarely, autosomal recessive inheritance has occurred in several families. Numerous different loci have been identified for the dominant types, with one specific gene (‘spastin’) on chromosome 2 particularly involved. It is impossible to exclude a high risk for offspring of an isolated case, unless a molecular defect has been found in affected relatives, and parents should always be examined carefully because manifestations can be very mild, especially in females. Fortunately, molecular diagnostics examining a large panel of relevant genes will often identify the underlying cause in a particular case or family. However, confusion with anoxic cerebral palsy and the dystonias can still occur. A magnetic resonance imaging scan of the brain and the spine is essential if there is any doubt about the diagnosis of a patient with signs of spasticity.
Examine the lower limbs
Published in Hani TS Benamer, Neurology for MRCP PACES, 2019
Q: What are the other causes of spastic paraparesis? Vitamin B12 deficiency.Thoracic cord meningioma in middle-aged women.Motor neurone disease.Hereditary spastic paraplegia.Tropical spastic paraplegia.Parasagittal meningioma.Radiation myelopathy.Syringomyelia.
Exome sequencing of a Pakistani family with spastic paraplegia identified an 18 bp deletion in the cytochrome B5 domain of FA2H
Published in Neurological Research, 2021
Safdar Abbas, Beatrice Brugger, Muhammad Zubair, Sana Gul, Jasmin Blatterer, Julian Wenninger, Khurram Rehman, Benjamin Tatrai, Muzammil Ahmad Khan, Christian Windpassinger
General diagnosis (based on phenotypic characteristics) of all the patients determined the complex type of hereditary spastic paraplegia as a common feature. The patients were presenting intellectual disability, severe signs and symptoms of stiffness or spasm in leg muscles [spastic paralysis of the legs (paraplegia)] and exaggerated reflexes. All affected individuals had normal head circumference. Physical appearance of patient’s leg and arm muscles was found very weak, however, no inflammation and edema of the muscle was observed. In these patients, hands and feet were turned inward at the joints and could not be flattened due to strong stiffness of the joints. Due to muscle weakness, the patients were unable to feed themselves and were dependent on liquid diet because of dysphagia. The first symptoms of the disease apparently appeared at the age of 3 to 4 years, later at the age of 5 to 6 years the patients could no longer walk. Patients IV-6, IV-7, and IV-8 died between 18 and 20 years of age. Although, the patients were given Vidaylin syrup (for vitamin supplementation) and regular massage of olive oil to coup with the muscle weakness, but these practices did not relieve the symptoms. Investigation of visceral organs revealed constipation and severe renal abnormality (kidney dysfunction and urinary tract obstruction), in the deceased patients which may have led to death. Additionally, the patients suffered from shortness of breath when walking due to weakness and exertion.
Neurophysiological features of primary lateral sclerosis
Published in Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2020
Mamede de Carvalho, Matthew C. Kiernan, Seth L Pullman, Kourosh Rezania, MR Turner, Zachary Simmons
In more recent studies, motor cortex inexcitability was observed in 10 out of 14 PLS patents (70%) but in only 25% from 82 ALS patients (18). This relative inexcitability of the motor cortex occurs when the threshold required to evoke a response is higher than the output of the stimulator, consistent with previous reports that demonstrated high cortical thresholds in PLS patients. In the remaining 4 PLS patients, resting cortical motor threshold was high, short interval intracortical inhibition (SICI) was abnormally reduced and intracortical facilitation (ICF) was increased (18). The same research group later investigated 21 PLS patients and described similar results for cortical inexcitability (65%), and that resting cortical motor threshold was significantly higher in PLS (75.5 ± 6.2%) compared to ALS (62.3 ± 12.6%, p = 0.046) (19). They confirmed that SICI and ICF were abnormal in PLS, as may also be observed in ALS (19). These observations support the notion that cortical dysfunction is a pathophysiological marker across different motor neuron disease phenotypes, with changes more prominent in PLS (17). Importantly, investigation of patients diagnosed with hereditary spastic paraplegia (HSP) established that these patterns of abnormality in cortical function as described in PLS were absent in HSP (18).
TDP-43 pathology in primary lateral sclerosis
Published in Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2020
Ian R. A. Mackenzie, Hannah Briemberg
The neuropathology archives of the University of British Columbia (UBC) were searched for cases with a clinical diagnosis of PLS. Cases in which UMN features were part of a more complex motor syndrome (e.g. progressive supranuclear palsy) were excluded. However, we did include cases with a family history and those who also developed dementia, since these are not considered exclusionary for the diagnosis of PLS (1) and because we were particularly interested in the relationship with ALS (which is often familial and associated with dementia). One case that, in a separate study, was found to harbor a variant in a gene (TFG) known to be associated with hereditary spastic paraplegia was excluded. The remaining seven patients had all been followed at the UBC ALS clinic and fulfilled current clinical criteria for definite (n = 6) or probable PLS (n = 1) (1). Two of the cases (Cases 6 and 7) had been published previously (10).