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  Agnes Tay: DIAG: 4 messages, 2 patient requests  

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Subject: DIAG: 4 messages, 2 patient requests
From: Agnes Tay <mcbtayhn@leonis.nus.sg>
Date: Tue, 17 Jun 1997 15:15:53 +0500

          HUM-MOLGEN  DIAGnostics/Clinical Research

This DIAG message contains 4 submessages,  2 patient requests:

1. Idebenone in Leber?--Pt Request

2. Hereditary neuralgic amyotrophy (HNA)



Carlo Gambacorti MD, Editor,            Agnes Tay, MD PhD, Asst Editor
Human Molecular Genetics Network
Diagnostics/Clinical Research Section

1. Idebenone in Leber Hereditary Optic Neuropathy?--2 similar Pt Requests
Apparent Pt Locations: Netherlands and US

My friend has the LHON disease and his vision is now 5%.
I understood that there are some results with Coenzyme Q10 and the same
kind of drug called "Idebenone".
Is there anybody who has heard about this drug in combination with
LEBER (LHON). And if so can you inform me where I can found more
information. Thank you very much.

2. Hereditary neuralgic amyotrophy (HNA)

Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant, recurrent
focal neuropathy characterized by episodes of painful brachial plexus neuropathy
with muscle weakness and atrophy, as well as sensory disturbances. Single
episodes are commonly preceded by unspecific infections or immunization, or
associated with parturition. Minor facial dysmorphic features are present in
some pedigrees but do not clearly segregate with the disease. To confirm the
recently described HNA locus on distal chromosome 17q, we performed a genetic
linkage study in an extended Turkish pedigree. We were able to refine the HNA
locus on chromosome 17q24-q25 in a 16 cM region (Stögbauer et al., Hum.Genet.
99:1997:685-687). In order to further refine the locus we are searching for
more HNA families to find more recombination events. We would be grateful for
collaboration with other groups who are aware of HNA families.

Please contact:
Florian Stögbauer
Klinik und Poliklinik für Neurologie
WWU Münster
Albert Schweitzer Str. 33
48129 Münster, Germany


The National Human Genome Research Institute is recruiting subjects for
spectral karyotype analysis. This technique uses combinatorial labeling by
fluorescent dyes and computer spectral analysis to detect small chromosomal
aberrations. The study involves a pre-enrollment record review. Eligible
subjects will be offered a paid trip to Bethesda for clinical evaluation
and specimen collection. The eligibility criteria include:

1. Proband has an abnormal karyotype, usually a derivative chromosome for
which the translocated material is of unknown origin. Both parents have
been karyotyped and the source of the material is still not clear.

2. The proband has some phenotypic abnormality (dysmorphic, medical,
developmental, or behavioral) that is judged to be due to segmental

3. The subject and both parents are willing to participate and the subject
and at least one parent are willing to travel to Bethesda.

Principal Investigators
Leslie Biesecker, M.D.,  301-402-2041, Email: leslieb@helix.nih.gov
Thomas Ried, Ph.D.,   301-594-3118, Email tried@nhgri.nih.gov
49 Convent Dr. Room 4A80
    Bethesda, MD 20892

If you have a patient who you think may be eligible for this study please
contact the
Study Coordinator:
        Ann C. M. Smith, MA, CGC, 301-402-2011 Email: acmsmith@nhgri.nih.gov
        Medical Genetics Branch, NHGRI
        10 Center Drive, MSC 1267
       Bldg 10, Room 3D53
       Bethesda, MD 20892-1267
      301-402-2011         Email: acmsmith@nhgri.nih.gov
The National Human Genome Research Institute is soliciting patients with
Greig Cephalopolysyndactyly syndrome for a research study.  The purpose of
the study is to perform clinical and molecular characterization of sporadic
and familial cases of this disorder.  Subjects accepted into the study will
receive paid travel to the NIH, a medical genetics evaluation, appropriate
imaging studies, and specimen acquisition for development of clinical
diagnostics and genotype-phenotype correlation.  For information on
eligibility and details about the study please contact:

Principal Investigator:
       Leslie Biesecker, M.D.,  301-402-2041 or leslieb@helix.nih.gov
        Mailing address: 49 Convent Dr., Bldg 49 Room 4A80, Bethesda, MD 20892

Study Coordinator:
        Kathy Peters, M.S.
        Medical Genetics Branch, NHGRI
        10 Center Drive
        Bldg 10, Room 10C101
        Bethesda, MD 20892
        301-402-9653            Email:  kpeters@nhgri.nih.gov

PLEASE NOTE AS OF JANUARY, 1997:  We are now OFFICIALLY the National Human
Genome Research Institute (NHGRI).  PLEASE NOTE NEW EMAIL ADDRESS.

Ann CM Smith, M.A., CGC
Translational Research & Laboratory Support Unit
Protocol and Laboratory Support Core
Medical Genetics Branch, NHGRI-NIH
BLDG 10, Room 3D53
10 Center Drive, MSC 1267
Bethesda, MD 20892-1267

>NIH office:     301-402-2011
>NIH FAX         301-435-3495 (NEW FAX)
>NIH email       acmsmith@nhgri.nih.gov
>BEEPER          202-539-4091 (at the tone enter your telephone number with
>AC and then the # sign
>Home/PRISMS/FAX   703-709-0568

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