The Scientific World Journal / 2013 / Article / Tab 1

Research Article

Phenotypes and Genotypes of Patients with Pantothenate Kinase-Associated Neurodegeneration in Asian and Caucasian Populations: 2 Cases and Literature Review

Table 1

Clinical features and genetic mutations in Asian patients with PKAN.

PatientCategory Onset
age/sex
Cognitive
decline
Bulbar
signs
Gait
disturbance
DystoniaTremorParkinsonismChoreaPyramidal signsEye-of-the-tiger on MRIPANK2 mutationReference

1Atypical23/MNDYS; CYYNNYUnknownOur patient 1
2Atypical17/MNNNS; CYNNNYI349XOur patient 2
3Atypical46/MYDYS; CYNNNYD378G/D452G Wu et al. [20]
4Atypical51/MNNYS; CYYNNND378G/D452G Wu et al. [20]
5Atypical17/MNDNS; CYYNNYD378G/I501N Zhang et al. [22, 25]
6Atypical35/MNDYCYYNNYD378G/ R440P L385fsX11 Seo et al. [17]
7Atypical48/MNNNNYNNNYL385fsX11/R440PYoon et al. [21]
8Atypical21/MNNNSNNNNYK335EChung et al. [12]
9Atypical29/MNNYSYNNYYD378G, L425del Lyoo et al. [14]
10Atypical28/MND; dNNYYNNYI346SDoi et al. [8]
11Atypical35/FNNNSNNYNYI346SDoi et al. [8]
12Atypical18/FNNYNYNNYYN355SYamashita et al. [10]
13Classic9/FYNYNNYNYYUnknown Saito et al. [16]
14Classic8/MYDYCNNYNNUnknown Saito et al. [16]
15Classic4/MND; dYGNNYNYUnknown Koyama and Yagishita [9]
16Classic9/MYDYNNNNYNUnknown Wakabajashi et al. [19]
17Classic6/MND; dNGNNNYYUnknown Tsukamoto et al. [18]
18Classic2/MND; dYGYNYYYUnknown Ou et al. [15]
19Classic10/MNDYG; CNNYNYP464LChan et al. [11]
20Classic2.5/FND; dYGYNNNYUnknown Chan et al. [11]
21Classic10/MYD; dYGNNNYYUnknown Fung and Chan [13]

PKAN: pantothenate kinsase-associated neurodegeneration; M: male; F: female; Y: yes; N: no; D: dysarthria; d: dysphagia; G: generalized; S: segmental; C: cranial.

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