Eur J Med Genet 2020 Jan 28
Expanding the clinical and neuroimaging features of NKX6-2-related hereditary spastic ataxia type 8.
Bereshneh AH, Hosseipour S, Rasoulinezhad MS, Pak N, Garshasbi M, Tavasoli AR
Pathogenic variants in NKX6-2 gene causing autosomal recessive spastic ataxia type 8 with hypomyelinating leukodystrophy have been reported in few fam ...
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Source: PubMed
J. Neurol. 2020 Jan 30
The neurological update: therapies for cerebellar ataxias in 2020.
Gandini J, Manto M, Bremova-Ertl T, Feil K, Strupp M
Cerebellar ataxias (CAs) represent a heterogeneous group of sporadic or inherited disorders. The clinical spectrum of CAs is continuously expanding. O ...
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Source: PubMed
J Community Hosp Intern Med Perspect
A case of multisystem Langerhans cell histiocytosis presenting as central diabetes insipidus.
Nicholas PD, Garrahy I
Langerhans cell histiocytosis (LCH) is a rare malignancy most commonly characterized by histiocytic infiltration of bone. LCH lesions in the skull pla ...
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Source: PubMed
World Neurosurg 2020 Jan 27
Spontaneous resolution of dorsal midbrain syndrome caused by a pineal cyst.
Lukewich MK, Alshafai L, Micieli JA
Pineal lesions are common causes of dorsal midbrain syndrome (DMS) and typically require surgical intervention in symptomatic patients. Here, we descr ...
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Source: PubMed
Eur. J. Neurol. 2020 Jan 30
Clinical implications of head-shaking nystagmus in central and peripheral vestibular disorders: Is perverted head-shaking nystagmus specific for central vestibular pathology?
Yang TH, Lee J, Oh SY, Kang JJ, Kim JS, Dieterich M
The patterns of head-shaking nystagmus (HSN) aid in differentiation between the central and peripheral vestibular disorders, and perverted HSN (pHSN) ...
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Source: PubMed
