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Hyperornithinemia, hyperammonemia, homocitrullinuria syndrome
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop
Progressive spastic paraplegia was emphasized as a clinical characteristic in three patients in one family [12]. It develops in almost all patients and was clearly evident in the oldest patient, who began to have progressive disturbance of gait at 14 years, and at 21 had increased deep tendon reflexes, sustained ankle clonus, and bilateral Babinski responses. His IQ was 67. He stuttered and had an aggressive personality that led to psychiatric consultation. His 18-year-old sister had an IQ of 60 and could not run or jump; deep tendon reflexes were increased and there were ankle clonus and Babinski responses. The 13-year-old brother had brisk deep tendon reflexes and an IQ of 51. Others have been reported with spastic paraplegia [17]. Pyramidal tract signs may be prominent [19].
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.
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).
Head and trunk kinematics and kinetics in normal and cerebral palsy gait: a systematic review
Published in European Journal of Physiotherapy, 2020
Animesh Hazari, Ioannis Agouris, Pallavi S. Wakode, Radhika A. Jadhav, Namrata Sharma, Sonali Jena, Mahesh Sharma
In few studies, distribution of participants could also be seen based on CP classification [4,16,20,23–25,27,31]. The most common type of CP under inclusion criteria of the review studies was spastic hemiplegia or diplegia. Only two studies included participants with either hemiplegia or diplegia [4,17]. In addition, some authors compared two different types of CP viz. spastic diplegia (SD) with hereditary spastic paraplegia (HSP) which could establish the marginal difference in gait characteristics between the two comparable groups. The study done by Bonnefoy-mazure [26] in this regard could be very useful. The study suggested that participants with HSP showed more trunk and spine movements to compensate for lower limb movement disorder whereas SD children used arm movements significantly. This finding could be a useful clinical sign to differentiate a HSP from SD.
Complicated SPG4 presenting with recurrent urinary tract infection
Published in Journal of Community Hospital Internal Medicine Perspectives, 2020
Kinsi Oberoi, Kabir S. Grewal, Leema Reddy Peddareddygari
SPG caused by mutations in the SPAST gene is typically inherited in an autosomal dominant manner and most commonly cause an uncomplicated form of spastic paraplegia. The ClinVar database reports 99 pathogenic SPG causing variants and an additional 21 variants with unknown significance in the SPAST gene. The encoded protein, spastin is associated with microtubule cytoskeleton and promotes microtubule disassembly [4]. The variant in our patient, c.508 C > T, p.Q170X, occurs in exon 2 which affects the microtubule interacting and trafficking domain (116–197 aa) where 7.2% of disease-causing SPAST mutations have been reported. A nearby variant, c.499 C > T, p.Gln167X causing pure HSP has been previously reported in one family [5].