Hereditary bimanual synkinesis combined with hypogonadotropic hypogonadism and anosmia in four brothers

Conrad, Bastian; Kriebel, Jennifer; Hetzel, W. D.

doi:10.1007/bf00312882

Cited by 48 publications

(17 citation statements)

References 36 publications

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“…These involuntary movements are thought to be due to either abnormal development of the ipsilateral corticospinal tract [Conrad et al, 1978] or lack of transcallosal inhibition [Dennis, 1976;Nass, 1985;Danek et al, 1992]. Synkinesis has been reported in KS patients with mutations in FGFR1, PROK2, and PROKR2, but is most commonly seen in patients with KAL1 mutations.…”

Section: Discussionmentioning

confidence: 97%

Clues to an early diagnosis of Kallmann syndrome

Kaplan

Bernstein

Kwan

et al. 2010

American J of Med Genetics Pt A

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Kallmann syndrome (KS) is defined by the association of idiopathic hypogonadotropic hypogonadism and anosmia/hyposmia. Diagnosis is frequently delayed, however, because hypogonadotropic hypogonadism is usually not apparent until puberty and individuals with anosmia/hyposmia are often unaware of this sensory deficit. Mutations in at least six genes have been associated with KS; however, the sensitivity of molecular testing is only about 30% and, therefore, the diagnosis is largely based on clinical findings. We describe the findings in six individuals with KS, which demonstrate the utility of associated anomalies in making this diagnosis. Analysis of our case series and literature review suggests the consideration of KS for males with microphallus and/or cryptorchidism and for any patient with hearing loss, renal agenesis, and/or synkinesis. Conversely, patients with features of KS should have an audiology evaluation and a renal ultrasound.

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Section: Discussionmentioning

confidence: 97%

Clues to an early diagnosis of Kallmann syndrome

Kaplan

Bernstein

Kwan

et al. 2010

American J of Med Genetics Pt A

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“…30 The authors suggested that uncrossed pyramidal tract fibers could be a major pathogenic factor for the occurrence of congenital MM. In a previous study, a deficient inhibitory mechanism between the right and left supplemental motor cortex was suggested as the MM etiology in patients presenting corpus callosum agenesis.…”

Section: Discussionmentioning

confidence: 99%

Whole-Brain Voxel-Based Morphometry in Kallmann Syndrome Associated with Mirror Movements

Koenigkam-Santos¹,

Santos²,

Borduqui³

et al. 2008

AJNR Am J Neuroradiol

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BACKGROUND AND PURPOSE:There are 2 main hypotheses concerning the cause of mirror movements (MM) in Kallmann syndrome (KS): abnormal development of the primary motor system, involving the ipsilateral corticospinal tract; and lack of contralateral motor cortex inhibitory mechanisms, mainly through the corpus callosum. The purpose of our study was to determine white and gray matter volume changes in a KS population by using optimized voxel-based morphometry (VBM) and to investigate the relationship between the abnormalities and the presence of MM, addressing the 2 mentioned hypotheses.

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“…Abnormalities of the corpus callosum and of pyramidal decussation in the cervical region have been considered above; other theories involving neural topography have also been considered, including inhibition of bilateral cerebral representation.20 loss of suppression of bilateral activity,75 impaired inhibitory function of the parietal lobe,2' 24 and use of ipsilaterally projecting corticospinal pathways.31 37 71 The case reported by Haerer and 595 Currier70 is of particular importance in this context. A patient with congenital and familial mirror movements sustained a cerebral infarction leading to a right hemiplegia; mirror movements persisted in the hand which'otherwise remained completely flacc'id and paralysed.…”

Section: Movementsmentioning

confidence: 99%