A variable phenotypic presentation and penetrance were present in the reported families. [content.iospress.com]

The crystal structure of this protein is not presently available. [nature.com]

Thyroglossal duct cyst presenting as a large isolated mass within the middle mediastinum.https://www.ncbi.nlm.nih.gov/pubmed/25858946Alavi A, Asadi Gharabaghi M. [en.tums.ac.ir]

Gln858* in ATP13A2 in two EOPD patients and presentation of their clinical features. [cambridge.org]

Generalized cerebral atrophy and cerebellar atrophy also frequently present. The age of onset is from infancy to late adulthood with variable progression. [preventiongenetics.com]

• Low Set Ears

  […] malformation Low-set ears Protruding ear Growth abnormality Failure to thrive IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. [ncbi.nlm.nih.gov]

  Dysmorphic features were variable and included depressed nasal bridge, bitemporal narrowing, prominent ears, low-set ears, small nose, abnormal dentition, sparse thin hair and eyebrows, and kyphoscoliosis. [findzebra.com]

  Characteristic features of the underlying disease (i.e. mental retardation, physiognomic features (long face, low set ears), action tremor in FXTAS; slow saccades in SCA2; pyramidal signs in SCA3; macular degeneration in SCA7; dementia, psychiatric features [content.iospress.com]

• Brittle Hair

  hair Fine hair Sparse eyelashes Sparse hair Abnormality of the musculoskeletal system Dandy-Walker syndrome Distal muscle weakness Hypotonia Joint hypermobility Joint stiffness Kyphosis Microcephaly Muscle weakness Pectus carinatum Scoliosis Abnormality [ncbi.nlm.nih.gov]

  More variable additional features included kyphoscoliosis, pectus carinatum, thin, sparse, brittle hair, and skin thickening and mottling, possibly reflecting autonomic dysfunction. [findzebra.com]

• Sparse Hair

  Abnormality of the integument Brittle hair Fine hair Sparse eyelashes Sparse hair Abnormality of the musculoskeletal system Dandy-Walker syndrome Distal muscle weakness Hypotonia Joint hypermobility Joint stiffness Kyphosis Microcephaly Muscle weakness [ncbi.nlm.nih.gov]

• Sparse Hair

  Abnormality of the integument Brittle hair Fine hair Sparse eyelashes Sparse hair Abnormality of the musculoskeletal system Dandy-Walker syndrome Distal muscle weakness Hypotonia Joint hypermobility Joint stiffness Kyphosis Microcephaly Muscle weakness [ncbi.nlm.nih.gov]

• Skin Thickening

  More variable additional features included kyphoscoliosis, pectus carinatum, thin, sparse, brittle hair, and skin thickening and mottling, possibly reflecting autonomic dysfunction. [findzebra.com]

• Joint Stiffness

  […] hypermobility Joint stiffness Kyphosis Microcephaly Muscle weakness Pectus carinatum Scoliosis Abnormality of the nervous system Brisk reflexes Broad-based gait Cerebellar vermis atrophy Choreoathetosis Dysmetria Dystonic disorder Gait ataxia Generalized [ncbi.nlm.nih.gov]

• Dysmetria

  […] syndrome Distal muscle weakness Hypotonia Joint hypermobility Joint stiffness Kyphosis Microcephaly Muscle weakness Pectus carinatum Scoliosis Abnormality of the nervous system Brisk reflexes Broad-based gait Cerebellar vermis atrophy Choreoathetosis Dysmetria [ncbi.nlm.nih.gov]

  The patients also had ataxia with a wide-based gait, mildly abnormal finger-nose test, dysmetria, and variable tremor and dystonia of the hands, feet, and face. [findzebra.com]

• Broad-Based Gait

  […] hair Abnormality of the musculoskeletal system Dandy-Walker syndrome Distal muscle weakness Hypotonia Joint hypermobility Joint stiffness Kyphosis Microcephaly Muscle weakness Pectus carinatum Scoliosis Abnormality of the nervous system Brisk reflexes Broad-based [ncbi.nlm.nih.gov]

• Generalized Tonic-Clonic Seizure

  tonic-clonic seizures Global developmental delay Globus pallidus hypointensity on susceptibility-weighted imaging Hypoplasia of the corpus callosum Inability to walk Intellectual disability Motor delay Severe global developmental delay Substantia nigra [ncbi.nlm.nih.gov]

• Generalized Seizure

  Only 1 patient had 4 generalized seizures between 15 and 29 years of age. Brain imaging showed cerebellar atrophy and hypointensities in the globus pallidus and substantia nigra, suggestive of abnormal iron deposition. [findzebra.com]

• Walking Delay

  All had delayed psychomotor development with mildly delayed walking, delayed speech, intellectual disability (IQ of 40 to 50), and behavioral abnormalities. One of the patients died at age 21 years. [findzebra.com]

Levodopa treatment is ineffective [185]. [content.iospress.com]

Epidemiology and treatment of mitochondrial disorders. Am. J. Med. Genet. 106, 94–101 (2001). Article CAS Google Scholar Zeviani, M. & Di Donato, S. Mitochondrial disorders. Brain 127, 2153–2172 (2004). Article Google Scholar Coenen, M. [nature.com]

PMID: 35624059 Prognosis Dai L, Xu JJ, Zhou WJ, Lü AP, Ji G J Integr Med 2022 Nov;20(6):524-533. Epub 2022 Aug 13 doi: 10.1016/j.joim.2022.08.002. [ncbi.nlm.nih.gov]

[…] callosum Inability to walk Intellectual disability Motor delay Severe global developmental delay Substantia nigra hypointensity on susceptibility-weighted imaging Tremor Ear malformation Low-set ears Protruding ear Growth abnormality Failure to thrive Etiology [ncbi.nlm.nih.gov]

The various etiologies of EO parkinsonism underlie distinct pathogenic mechanisms, particularly related to the genetic mutations. [content.iospress.com]

Epidemiology and treatment of mitochondrial disorders. Am. J. Med. Genet. 106, 94–101 (2001). Article CAS Google Scholar Zeviani, M. & Di Donato, S. Mitochondrial disorders. Brain 127, 2153–2172 (2004). Article Google Scholar Coenen, M. [nature.com]

Mov Disord 27, 1769–1774. [168] Salen G, Steiner RD (2017) Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX). [content.iospress.com]

Neurodegeneration with brain iron accumulation: genetic diversity and pathophysiological mechanisms. [cambridge.org]

[…] acid (MMA) in the urine and plasma has often been reported, and it was suggested that MMA is the hallmark of encephalomyopathy due to mutations in SUCLA2.8 The elevation is a consequence of succinyl-CoA buildup, which occurs because SUCLA2 mutations prevent [nature.com]

J Neural Transm 128, 1185–1193. [114] Ascherio A, Schwarzschild MA (2016) The epidemiology of Parkinson’s disease: Risk factors and prevention. [content.iospress.com]