<i>PRKRA</i>‐Related Disorders: Bilateral Striatal Degeneration in Addition to DYT16 Spectrum

Masnada, Silvia; Martinelli, Diego; Correa‐Vela, Marta; Agolini, Emanuele; Baide‐Mairena, Heidy; Marcé‐Grau, Anna; Parazzini, Cecilia; Veggiotti, Pierangelo; Pérez‐Dueñas, Belén; Tonduti, Davide

doi:10.1002/mds.28492

Cited by 11 publications

(21 citation statements)

References 9 publications

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“…The disorder was initially described in three Brazilian families [ 179 ]. In a few cases, bilateral striatal degeneration has been observed on brain MRI [ 180, 181 ]. However, the three described cases presented with a very young age of onset, before the age of 20 [ 180, 181 ].…”

Section: Methodsmentioning

confidence: 99%

A Practical Approach to Early-Onset Parkinsonism

Riboldi¹,

Frattini

Monfrini

et al. 2022

JPD

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Early-onset parkinsonism (EO parkinsonism), defined as subjects with disease onset before the age of 40 or 50 years, can be the main clinical presentation of a variety of conditions that are important to differentiate. Although rarer than classical late-onset Parkinson’s disease (PD) and not infrequently overlapping with forms of juvenile onset PD, a correct diagnosis of the specific cause of EO parkinsonism is critical for offering appropriate counseling to patients, for family and work planning, and to select the most appropriate symptomatic or etiopathogenic treatments. Clinical features, radiological and laboratory findings are crucial for guiding the differential diagnosis. Here we summarize the most important conditions associated with primary and secondary EO parkinsonism. We also proposed a practical approach based on the current literature and expert opinion to help movement disorders specialists and neurologists navigate this complex and challenging landscape.

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Section: Methodsmentioning

confidence: 99%

A Practical Approach to Early-Onset Parkinsonism

Riboldi¹,

Frattini

Monfrini

et al. 2022

JPD

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“…Oromandibular dystonia and opisthotonus become prominent, whereas non-levodopa responsive parkinsonism is developed later. Although brain MRI is frequently unremarkable, striatal hyperintensities have been reported in some cases [53]. GM1 type 3 gangliosidosis due to β-galactosidase deficiency frequently present as a dystoniaparkinsonism phenotype with generalised dystonia with prominent bulbar and oromandibular dystonia and facial grimacing.…”

Section: H Morales-briceno Et Almentioning

confidence: 99%

Parkinsonism and dystonia: Clinical spectrum and diagnostic clues

Morales‐Briceño

Fung

Bhatia

et al. 2022

Journal of the Neurological Sciences

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“…Although these spinal abnormalities have not been reported previously, of relevance hyperintensities in the region of the cervicomedullary junction have been reported in 3 patients. 1,2 Cases of PRKRA-related dystonia manifesting in childhood after an initial febrile illness have been reported, and whilst the MRI is often normal, basal ganglia T2 hyperintensity has rarely been described, 7 analogous to what has been reported in EIF2AK2 mutations. The basal ganglia lesions had previously led us to consider mitochondrial disorders, metabolic disorders including ECHS1 or pyruvate dehydrogenase complex deficiency, aminoacidopathies, AGS and biotinresponsive basal ganglia disease, all of which can have a similar imaging appearance 8 but were excluded on genetic analysis.…”

Section: Discussionmentioning

confidence: 98%

Possible EIF2AK2‐Associated Stress‐Related Neurological Decompensation with Combined Dystonia and Striatal Lesions

Waller

Morales‐Briceño

Williams

et al. 2021

Movement Disord Clin Pract

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Background Background: Variants in EIF2AK2 have been recently associated with a spectrum of neurological disease encompassing isolated dystonia to fever-related neurological decompensation, movement disorders and leukodystrophy. Case Case: A 32-year old patient presented with childhood-onset episodes of neurological decompensation after febrile illness, progressive anarthria, dystonia and spasticity. The T2/FLAIR MRI showed bilateral posterolateral putamen hyperintensities and white matter changes suggestive of leukodystrophy. Initial extensive metabolic workup and whole genome sequencing (WGS) was unremarkable. Re-analysis of the WGS data revealed a variant in exon 3 of the EIF2AK2 gene [(NM_001135651.3): c.92C > G (p.Pro31Arg)]. EIF2AK2-associated disorders should be incorporated into the differential diagnosis of the syndrome of fever-related neurological decompensation with movement disorders, especially in the presence of abnormal neuroimaging. Literature review Literature review: Disease-causing variants in EIF2AK2 have been reported in 24 individuals from 16 families in the literature to date. Two broad phenotypes have been described, including: (1) childhood-onset generalized dystonia and a normal brain MRI; and (2) early childhood-onset developmental delay combined with movement disorders, spasticity, and seizures in some. Notably, 92% of these patients have neurological deterioration after febrile illness or other physiological stress. Hypomyelination or delayed myelination and thin corpus callosum are seen in most patients and lower medullary lessions are common. Basal ganglia lesions have been reported previously in one case. Conclusions Conclusions: EIF2AK2-associated disorders should be incorporated into the differential diagnosis of the syndrome of fever-related neurological decompensation with movement disorders, especially in the presence of abnormal neuroimaging.

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PRKRA‐Related Disorders: Bilateral Striatal Degeneration in Addition to DYT16 Spectrum

Cited by 11 publications

References 9 publications

A Practical Approach to Early-Onset Parkinsonism

A Practical Approach to Early-Onset Parkinsonism

Parkinsonism and dystonia: Clinical spectrum and diagnostic clues

Possible EIF2AK2‐Associated Stress‐Related Neurological Decompensation with Combined Dystonia and Striatal Lesions

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