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Orotic aciduria
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
Impaired physical and intellectual development has been observed [12, 17], but not invariably, since treatment has become available [3]. It has recently become apparent that there is another phenotype in which patients display developmental delay, in some relatively mild and no hematologic symptoms (Nyhan, unpublished observations) [16] (Figure 73.2). One had oculomotor apraxia. Orotic aciduria may be quantitatively less than in classic patients.
The Cerebellar Ataxias and Hereditary Spastic Paraplegias
Published in John W. Scadding, Nicholas A. Losseff, Clinical Neurology, 2011
Ataxia with oculomotor apraxia (AOA) is accompanied by oculomotor apraxia with abnormal restricted eye movements and head thrusting to shift gaze. In AOA type 1, there is a peripheral neuropathy, chorea, hypercholesterolaemia and low serum albumin; it is caused by various mutations of the aprataxin gene on chromosome 9p13.In AOA type 2, there is less prominent oculomotor apraxia, but more consistent peripheral neuropathy and dyskinesia (chorea or dystonia); serum alpha fetoprotein and creatine kinase levels are increased. AOA2 is caused by mutations of the senataxin SETX gene on chromosome 9q34 and accounts for 8 per cent of early onset ataxia, second only to FA.
Variability of retinopathy consequent upon novel mutations in LAMA1
Published in Ophthalmic Genetics, 2022
Elena R. Schiff, Nancy Aychoua, Savita Nutan, Indran Davagnanam, Anthony T. Moore, A. G. Robson, C. K. Patel, Andrew R. Webster, Gavin Arno
Patient III-4 is a 37-year-old male who had no visual complaints and no night vision problems. He reported difficulties moving his eyes as a youngster and had to move his head instead. He was diagnosed as having oculomotor apraxia. However, this was no longer a problem for him in adulthood. He had speech therapy as a child to help pronounce consonants. His VA was 6/9 in both eyes. He correctly identified all the colour plates of the Ishihara test when each eye was tested. There was no nystagmus, and he had a full field of vision to confrontation. Retinal examination showed largely normal retina with bilateral small areas of degeneration slightly temporal to the macula (Figure 3c). FAF imaging showed evident reduction in autofluorescence corresponding to the same areas of degeneration (Figure 3c). SD-OCT showed a well-preserved foveal architecture with multiple pigment epithelial detachments in both eyes (Figure 3c).
A Novel Variant in CWF19L1 Gene in a Family with Late-Onset Autosomal Recessive Cerebellar Ataxia 17
Published in Neurological Research, 2021
Hussein Algahtani, Bader Shirah, Samah Almatrafi, Mohammad H. Al-Qahtani, Angham Abdulrahman Abdulkareem, Muhammad Imran Naseer
While performing a literature review, three previous publications have reported the clinical features and genetic analysis of four patients with novel variants in CWF19L1 (Table 1). In 2014, Burns et al [5]. reported two siblings born of consanguineous Turkish parents with non-progressive congenital cerebellar ataxia. They presented with motor delay, unsteady gait, and frequent falls. In their adolescent age, their physical examination showed florid cerebellar signs with hyperreflexia in the lower extremities. The IQ of one of their patients was low indicating cognitive impairment. Brain MRI of both siblings showed cerebellar hypoplasia predominantly affecting the vermis. Another study by Nguyen et al [6]. described a 10-year-old girl from a Dutch non-consanguineous family, who had dystonic movements in upper extremities, hypotonia, and cerebellar atrophy on MRI. Also, this patient had oculomotor apraxia and intellectual disability as additional features. Evers et al [7]. reported a 9-year-old boy from consanguineous Turkish parents who presented with motor developmental delay and unsteady gait with subsequent development of florid cerebellar symptoms and signs. Other interesting clinical features in this report were microcephaly and mildly impaired intellectual development. Sequential neuroimaging showed progressive cerebellar atrophy.
Neuro-ophthalmology of movement disorders
Published in Expert Review of Ophthalmology, 2018
Oculomotor apraxia, conjunctival telangiectasia, impaired gaze fixation, impaired smooth pursuit, nystagmus, hypometric saccades, photophobia with increased blink rate are common ocular signs in patients with ataxia-telangiectasia [61]. Oculomotor apraxia is also a cardinal feature of ataxia with oculomotor apraxia type 1 and 2 [54]. Other genetic and acquired conditions that can present with oculomotor apraxia in combination with movement disorders include CBS, PSP, Gaucher disease, Niemann Pick type C, and Joubert syndrome [54,62]. Bilateral lesions along the supranuclear gaze pathways, usually due to bilateral frontal or parietal ischemia or hemorrhages, also can cause oculomotor apraxia [62].